Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116988_11116989insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG , CM000681.2:g.11116988_11116989insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	GRCh38
NC_000019.9:g.11227664_11227665insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG , CM000681.1:g.11227664_11227665insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	GRCh37
NC_000019.8:g.11088664_11088665insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	NCBI36
NG_009060.1:g.32608_32609insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG , LRG_274:g.32608_32609insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2093_2094insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	ENSP00000252444.6:p.Val699SerfsTer10
ENST00000559340.2:c.1705+776_1705+777insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	ENSP00000453696.2:n.1705+776_1705+777insGTCCTGCGCCACGTTGCGCAC...
ENST00000560467.2:c.1715_1716insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	ENSP00000453513.2:p.Val573SerfsTer10
ENST00000558518.6:c.1835_1836insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG MANE Select	ENSP00000454071.1:p.Val613SerfsTer10
ENST00000252444.9:c.2089_2090insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG
ENST00000455727.6:c.1331_1332insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	ENSP00000397829.2:p.Val445SerfsTer10
ENST00000535915.5:c.1712_1713insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	ENSP00000440520.1:p.Val572SerfsTer10
ENST00000545707.5:c.1454_1455insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	ENSP00000437639.1:p.Val486SerfsTer10
ENST00000557933.5:c.1835_1836insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	ENSP00000453557.1:p.Val613SerfsTer10
ENST00000558013.5:c.1835_1836insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	ENSP00000453346.1:p.Val613SerfsTer10
ENST00000558518.5:c.1835_1836insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	ENSP00000454071.1:p.Val613SerfsTer10
ENST00000559340.1:c.426+776_426+777insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG
NM_000527.4:c.1835_1836insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG , LRG_274t1:c.1835_1836insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	NP_000518.1:p.Val613SerfsTer10
NM_001195798.1:c.1835_1836insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	NP_001182727.1:p.Val613SerfsTer10
NM_001195799.1:c.1712_1713insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	NP_001182728.1:p.Val572SerfsTer10
NM_001195800.1:c.1331_1332insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	NP_001182729.1:p.Val445SerfsTer10
NM_001195803.1:c.1454_1455insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	NP_001182732.1:p.Val486SerfsTer10
XM_011528010.1:c.1835_1836insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	XP_011526312.1:p.Val613SerfsTer10
XM_011528011.1:c.1454_1455insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	XP_011526313.1:p.Val486SerfsTer10
XR_244074.2:n.1855+776_1855+777insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG
XM_011528010.2:c.1835_1836insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	XP_011526312.1:p.Val613SerfsTer10
XR_001753685.2:n.1952_1953insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG
XR_001753686.2:n.1822+776_1822+777insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG
NM_000527.5:c.1835_1836insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG MANE Select	NP_000518.1:p.Val613SerfsTer10
NM_001195798.2:c.1835_1836insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	NP_001182727.1:p.Val613SerfsTer10
NM_001195799.2:c.1712_1713insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	NP_001182728.1:p.Val572SerfsTer10
NM_001195800.2:c.1331_1332insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	NP_001182729.1:p.Val445SerfsTer10
NM_001195803.2:c.1454_1455insGTCCTGCGCCACGTTGCGCACCTCGTGCTGACCGAAGTGCTGTTCGTTCTGCAGTGGGGACTGATAGACGAAGAACTTGCCCGGGACGACCTTGTGCCGGCCGACGACCTCAACTTGCCAGCCAAACGGG	NP_001182732.1:p.Val486SerfsTer10