Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129708_11129709delinsGC , CM000681.2:g.11129708_11129709delinsGC	GRCh38
NC_000019.9:g.11240384_11240385delinsGC , CM000681.1:g.11240384_11240385delinsGC	GRCh37
NC_000019.8:g.11101384_11101385delinsGC	NCBI36
NG_009060.1:g.45328_45329delinsGC , LRG_274:g.45328_45329delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2805+38_2805+39delinsGC	ENSP00000252444.6:n.2805+38_2805+39delinsGC
ENST00000559340.2:c.616+38_616+39delinsGC	ENSP00000453696.2:n.616+38_616+39delinsGC
ENST00000560467.2:c.2427+38_2427+39delinsGC	ENSP00000453513.2:n.2427+38_2427+39delinsGC
ENST00000558518.6:c.2547+38_2547+39delinsGC MANE Select	ENSP00000454071.1:n.2547+38_2547+39delinsGC
ENST00000252444.9:c.2801+38_2801+39delinsGC
ENST00000455727.6:c.2043+38_2043+39delinsGC	ENSP00000397829.2:n.2043+38_2043+39delinsGC
ENST00000535915.5:c.2424+38_2424+39delinsGC	ENSP00000440520.1:n.2424+38_2424+39delinsGC
ENST00000545707.5:c.2013+38_2013+39delinsGC	ENSP00000437639.1:n.2013+38_2013+39delinsGC
ENST00000557933.5:c.2609+38_2609+39delinsGC	ENSP00000453557.1:n.2609+38_2609+39delinsGC
ENST00000558013.5:c.2547+38_2547+39delinsGC	ENSP00000453346.1:n.2547+38_2547+39delinsGC
ENST00000558518.5:c.2547+38_2547+39delinsGC	ENSP00000454071.1:n.2547+38_2547+39delinsGC
ENST00000560628.1:n.108+2054_108+2055delinsGC
NM_000527.4:c.2547+38_2547+39delinsGC , LRG_274t1:c.2547+38_2547+39delinsGC	NP_000518.1:n.2547+38_2547+39delinsGC
NM_001195798.1:c.2547+38_2547+39delinsGC	NP_001182727.1:n.2547+38_2547+39delinsGC
NM_001195799.1:c.2424+38_2424+39delinsGC	NP_001182728.1:n.2424+38_2424+39delinsGC
NM_001195800.1:c.2043+38_2043+39delinsGC	NP_001182729.1:n.2043+38_2043+39delinsGC
NM_001195803.1:c.2013+38_2013+39delinsGC	NP_001182732.1:n.2013+38_2013+39delinsGC
XM_011528010.1:c.2469+38_2469+39delinsGC	XP_011526312.1:n.2469+38_2469+39delinsGC
XM_011528011.1:c.2166+38_2166+39delinsGC	XP_011526313.1:n.2166+38_2166+39delinsGC
XM_011528010.2:c.2469+38_2469+39delinsGC	XP_011526312.1:n.2469+38_2469+39delinsGC
XR_001753685.2:n.2881+38_2881+39delinsGC
XR_001753686.2:n.2524+38_2524+39delinsGC
NM_000527.5:c.2547+38_2547+39delinsGC MANE Select	NP_000518.1:n.2547+38_2547+39delinsGC
NM_001195798.2:c.2547+38_2547+39delinsGC	NP_001182727.1:n.2547+38_2547+39delinsGC
NM_001195799.2:c.2424+38_2424+39delinsGC	NP_001182728.1:n.2424+38_2424+39delinsGC
NM_001195800.2:c.2043+38_2043+39delinsGC	NP_001182729.1:n.2043+38_2043+39delinsGC
NM_001195803.2:c.2013+38_2013+39delinsGC	NP_001182732.1:n.2013+38_2013+39delinsGC