Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120284_11120286delinsACT , CM000681.2:g.11120284_11120286delinsACT	GRCh38
NC_000019.9:g.11230960_11230962delinsACT , CM000681.1:g.11230960_11230962delinsACT	GRCh37
NC_000019.8:g.11091960_11091962delinsACT	NCBI36
NG_009060.1:g.35904_35906delinsACT , LRG_274:g.35904_35906delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2245+51_2245+53delinsACT	ENSP00000252444.6:n.2245+51_2245+53delinsACT
ENST00000559340.2:c.56+51_56+53delinsACT	ENSP00000453696.2:n.56+51_56+53delinsACT
ENST00000560467.2:c.1867+51_1867+53delinsACT	ENSP00000453513.2:n.1867+51_1867+53delinsACT
ENST00000558518.6:c.1987+51_1987+53delinsACT MANE Select	ENSP00000454071.1:n.1987+51_1987+53delinsACT
ENST00000252444.9:c.2241+51_2241+53delinsACT
ENST00000455727.6:c.1483+51_1483+53delinsACT	ENSP00000397829.2:n.1483+51_1483+53delinsACT
ENST00000535915.5:c.1864+51_1864+53delinsACT	ENSP00000440520.1:n.1864+51_1864+53delinsACT
ENST00000545707.5:c.1606+51_1606+53delinsACT	ENSP00000437639.1:n.1606+51_1606+53delinsACT
ENST00000557933.5:c.1987+51_1987+53delinsACT	ENSP00000453557.1:n.1987+51_1987+53delinsACT
ENST00000558013.5:c.1987+51_1987+53delinsACT	ENSP00000453346.1:n.1987+51_1987+53delinsACT
ENST00000558518.5:c.1987+51_1987+53delinsACT	ENSP00000454071.1:n.1987+51_1987+53delinsACT
ENST00000559340.1:c.568+51_568+53delinsACT
NM_000527.4:c.1987+51_1987+53delinsACT , LRG_274t1:c.1987+51_1987+53delinsACT	NP_000518.1:n.1987+51_1987+53delinsACT
NM_001195798.1:c.1987+51_1987+53delinsACT	NP_001182727.1:n.1987+51_1987+53delinsACT
NM_001195799.1:c.1864+51_1864+53delinsACT	NP_001182728.1:n.1864+51_1864+53delinsACT
NM_001195800.1:c.1483+51_1483+53delinsACT	NP_001182729.1:n.1483+51_1483+53delinsACT
NM_001195803.1:c.1606+51_1606+53delinsACT	NP_001182732.1:n.1606+51_1606+53delinsACT
XM_011528010.1:c.1987+51_1987+53delinsACT	XP_011526312.1:n.1987+51_1987+53delinsACT
XM_011528011.1:c.1606+51_1606+53delinsACT	XP_011526313.1:n.1606+51_1606+53delinsACT
XR_244074.2:n.1997+51_1997+53delinsACT
XM_011528010.2:c.1987+51_1987+53delinsACT	XP_011526312.1:n.1987+51_1987+53delinsACT
XR_001753685.2:n.2104+51_2104+53delinsACT
XR_001753686.2:n.1964+51_1964+53delinsACT
NM_000527.5:c.1987+51_1987+53delinsACT MANE Select	NP_000518.1:n.1987+51_1987+53delinsACT
NM_001195798.2:c.1987+51_1987+53delinsACT	NP_001182727.1:n.1987+51_1987+53delinsACT
NM_001195799.2:c.1864+51_1864+53delinsACT	NP_001182728.1:n.1864+51_1864+53delinsACT
NM_001195800.2:c.1483+51_1483+53delinsACT	NP_001182729.1:n.1483+51_1483+53delinsACT
NM_001195803.2:c.1606+51_1606+53delinsACT	NP_001182732.1:n.1606+51_1606+53delinsACT