Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113603_11113618delinsA , CM000681.2:g.11113603_11113618delinsA	GRCh38
NC_000019.9:g.11224279_11224294delinsA , CM000681.1:g.11224279_11224294delinsA	GRCh37
NC_000019.8:g.11085279_11085294delinsA	NCBI36
NG_009060.1:g.29223_29238delinsA , LRG_274:g.29223_29238delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1685_1700delinsA	ENSP00000252444.6:p.Pro562_Val567delinsGln
ENST00000559340.2:c.1427_1442delinsA	ENSP00000453696.2:p.Pro476_Val481delinsGln
ENST00000560467.2:c.1307_1322delinsA	ENSP00000453513.2:p.Pro436_Val441delinsGln
ENST00000558518.6:c.1427_1442delinsA MANE Select	ENSP00000454071.1:p.Pro476_Val481delinsGln
ENST00000252444.9:c.1681_1696delinsA
ENST00000455727.6:c.923_938delinsA	ENSP00000397829.2:p.Pro308_Val313delinsGln
ENST00000535915.5:c.1304_1319delinsA	ENSP00000440520.1:p.Pro435_Val440delinsGln
ENST00000545707.5:c.1046_1061delinsA	ENSP00000437639.1:p.Pro349_Val354delinsGln
ENST00000557933.5:c.1427_1442delinsA	ENSP00000453557.1:p.Pro476_Val481delinsGln
ENST00000558013.5:c.1427_1442delinsA	ENSP00000453346.1:p.Pro476_Val481delinsGln
ENST00000558518.5:c.1427_1442delinsA	ENSP00000454071.1:p.Pro476_Val481delinsGln
ENST00000559340.1:c.148_163delinsA
ENST00000560467.1:c.907_922delinsA
NM_000527.4:c.1427_1442delinsA , LRG_274t1:c.1427_1442delinsA	NP_000518.1:p.Pro476_Val481delinsGln
NM_001195798.1:c.1427_1442delinsA	NP_001182727.1:p.Pro476_Val481delinsGln
NM_001195799.1:c.1304_1319delinsA	NP_001182728.1:p.Pro435_Val440delinsGln
NM_001195800.1:c.923_938delinsA	NP_001182729.1:p.Pro308_Val313delinsGln
NM_001195803.1:c.1046_1061delinsA	NP_001182732.1:p.Pro349_Val354delinsGln
XM_011528010.1:c.1427_1442delinsA	XP_011526312.1:p.Pro476_Val481delinsGln
XM_011528011.1:c.1046_1061delinsA	XP_011526313.1:p.Pro349_Val354delinsGln
XR_244074.2:n.1577_1592delinsA
XM_011528010.2:c.1427_1442delinsA	XP_011526312.1:p.Pro476_Val481delinsGln
XR_001753685.2:n.1544_1559delinsA
XR_001753686.2:n.1544_1559delinsA
NM_000527.5:c.1427_1442delinsA MANE Select	NP_000518.1:p.Pro476_Val481delinsGln
NM_001195798.2:c.1427_1442delinsA	NP_001182727.1:p.Pro476_Val481delinsGln
NM_001195799.2:c.1304_1319delinsA	NP_001182728.1:p.Pro435_Val440delinsGln
NM_001195800.2:c.923_938delinsA	NP_001182729.1:p.Pro308_Val313delinsGln
NM_001195803.2:c.1046_1061delinsA	NP_001182732.1:p.Pro349_Val354delinsGln