Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113863_11113864delinsGT , CM000681.2:g.11113863_11113864delinsGT	GRCh38
NC_000019.9:g.11224539_11224540delinsGT , CM000681.1:g.11224539_11224540delinsGT	GRCh37
NC_000019.8:g.11085539_11085540delinsGT	NCBI36
NG_009060.1:g.29483_29484delinsGT , LRG_274:g.29483_29484delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1844+101_1844+102delinsGT	ENSP00000252444.6:n.1844+101_1844+102delinsGT
ENST00000559340.2:c.1586+101_1586+102delinsGT	ENSP00000453696.2:n.1586+101_1586+102delinsGT
ENST00000560467.2:c.1466+101_1466+102delinsGT	ENSP00000453513.2:n.1466+101_1466+102delinsGT
ENST00000558518.6:c.1586+101_1586+102delinsGT MANE Select	ENSP00000454071.1:n.1586+101_1586+102delinsGT
ENST00000252444.9:c.1840+101_1840+102delinsGT
ENST00000455727.6:c.1082+101_1082+102delinsGT	ENSP00000397829.2:n.1082+101_1082+102delinsGT
ENST00000535915.5:c.1463+101_1463+102delinsGT	ENSP00000440520.1:n.1463+101_1463+102delinsGT
ENST00000545707.5:c.1205+101_1205+102delinsGT	ENSP00000437639.1:n.1205+101_1205+102delinsGT
ENST00000557933.5:c.1586+101_1586+102delinsGT	ENSP00000453557.1:n.1586+101_1586+102delinsGT
ENST00000558013.5:c.1586+101_1586+102delinsGT	ENSP00000453346.1:n.1586+101_1586+102delinsGT
ENST00000558518.5:c.1586+101_1586+102delinsGT	ENSP00000454071.1:n.1586+101_1586+102delinsGT
ENST00000559340.1:c.307+101_307+102delinsGT
NM_000527.4:c.1586+101_1586+102delinsGT , LRG_274t1:c.1586+101_1586+102delinsGT	NP_000518.1:n.1586+101_1586+102delinsGT
NM_001195798.1:c.1586+101_1586+102delinsGT	NP_001182727.1:n.1586+101_1586+102delinsGT
NM_001195799.1:c.1463+101_1463+102delinsGT	NP_001182728.1:n.1463+101_1463+102delinsGT
NM_001195800.1:c.1082+101_1082+102delinsGT	NP_001182729.1:n.1082+101_1082+102delinsGT
NM_001195803.1:c.1205+101_1205+102delinsGT	NP_001182732.1:n.1205+101_1205+102delinsGT
XM_011528010.1:c.1586+101_1586+102delinsGT	XP_011526312.1:n.1586+101_1586+102delinsGT
XM_011528011.1:c.1205+101_1205+102delinsGT	XP_011526313.1:n.1205+101_1205+102delinsGT
XR_244074.2:n.1736+101_1736+102delinsGT
XM_011528010.2:c.1586+101_1586+102delinsGT	XP_011526312.1:n.1586+101_1586+102delinsGT
XR_001753685.2:n.1703+101_1703+102delinsGT
XR_001753686.2:n.1703+101_1703+102delinsGT
NM_000527.5:c.1586+101_1586+102delinsGT MANE Select	NP_000518.1:n.1586+101_1586+102delinsGT
NM_001195798.2:c.1586+101_1586+102delinsGT	NP_001182727.1:n.1586+101_1586+102delinsGT
NM_001195799.2:c.1463+101_1463+102delinsGT	NP_001182728.1:n.1463+101_1463+102delinsGT
NM_001195800.2:c.1082+101_1082+102delinsGT	NP_001182729.1:n.1082+101_1082+102delinsGT
NM_001195803.2:c.1205+101_1205+102delinsGT	NP_001182732.1:n.1205+101_1205+102delinsGT