Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120253_11120254delinsAC , CM000681.2:g.11120253_11120254delinsAC	GRCh38
NC_000019.9:g.11230929_11230930delinsAC , CM000681.1:g.11230929_11230930delinsAC	GRCh37
NC_000019.8:g.11091929_11091930delinsAC	NCBI36
NG_009060.1:g.35873_35874delinsAC , LRG_274:g.35873_35874delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2245+20_2245+21delinsAC	ENSP00000252444.6:n.2245+20_2245+21delinsAC
ENST00000559340.2:c.56+20_56+21delinsAC	ENSP00000453696.2:n.56+20_56+21delinsAC
ENST00000560467.2:c.1867+20_1867+21delinsAC	ENSP00000453513.2:n.1867+20_1867+21delinsAC
ENST00000558518.6:c.1987+20_1987+21delinsAC MANE Select	ENSP00000454071.1:n.1987+20_1987+21delinsAC
ENST00000252444.9:c.2241+20_2241+21delinsAC
ENST00000455727.6:c.1483+20_1483+21delinsAC	ENSP00000397829.2:n.1483+20_1483+21delinsAC
ENST00000535915.5:c.1864+20_1864+21delinsAC	ENSP00000440520.1:n.1864+20_1864+21delinsAC
ENST00000545707.5:c.1606+20_1606+21delinsAC	ENSP00000437639.1:n.1606+20_1606+21delinsAC
ENST00000557933.5:c.1987+20_1987+21delinsAC	ENSP00000453557.1:n.1987+20_1987+21delinsAC
ENST00000558013.5:c.1987+20_1987+21delinsAC	ENSP00000453346.1:n.1987+20_1987+21delinsAC
ENST00000558518.5:c.1987+20_1987+21delinsAC	ENSP00000454071.1:n.1987+20_1987+21delinsAC
ENST00000559340.1:c.568+20_568+21delinsAC
NM_000527.4:c.1987+20_1987+21delinsAC , LRG_274t1:c.1987+20_1987+21delinsAC	NP_000518.1:n.1987+20_1987+21delinsAC
NM_001195798.1:c.1987+20_1987+21delinsAC	NP_001182727.1:n.1987+20_1987+21delinsAC
NM_001195799.1:c.1864+20_1864+21delinsAC	NP_001182728.1:n.1864+20_1864+21delinsAC
NM_001195800.1:c.1483+20_1483+21delinsAC	NP_001182729.1:n.1483+20_1483+21delinsAC
NM_001195803.1:c.1606+20_1606+21delinsAC	NP_001182732.1:n.1606+20_1606+21delinsAC
XM_011528010.1:c.1987+20_1987+21delinsAC	XP_011526312.1:n.1987+20_1987+21delinsAC
XM_011528011.1:c.1606+20_1606+21delinsAC	XP_011526313.1:n.1606+20_1606+21delinsAC
XR_244074.2:n.1997+20_1997+21delinsAC
XM_011528010.2:c.1987+20_1987+21delinsAC	XP_011526312.1:n.1987+20_1987+21delinsAC
XR_001753685.2:n.2104+20_2104+21delinsAC
XR_001753686.2:n.1964+20_1964+21delinsAC
NM_000527.5:c.1987+20_1987+21delinsAC MANE Select	NP_000518.1:n.1987+20_1987+21delinsAC
NM_001195798.2:c.1987+20_1987+21delinsAC	NP_001182727.1:n.1987+20_1987+21delinsAC
NM_001195799.2:c.1864+20_1864+21delinsAC	NP_001182728.1:n.1864+20_1864+21delinsAC
NM_001195800.2:c.1483+20_1483+21delinsAC	NP_001182729.1:n.1483+20_1483+21delinsAC
NM_001195803.2:c.1606+20_1606+21delinsAC	NP_001182732.1:n.1606+20_1606+21delinsAC