Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123677_11123678delinsCA , CM000681.2:g.11123677_11123678delinsCA	GRCh38
NC_000019.9:g.11234353_11234354delinsCA , CM000681.1:g.11234353_11234354delinsCA	GRCh37
NC_000019.8:g.11095353_11095354delinsCA	NCBI36
NG_009060.1:g.39297_39298delinsCA , LRG_274:g.39297_39298delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2569+333_2569+334delinsCA	ENSP00000252444.6:n.2569+333_2569+334delinsCA
ENST00000559340.2:c.380+333_380+334delinsCA	ENSP00000453696.2:n.380+333_380+334delinsCA
ENST00000560467.2:c.2191+333_2191+334delinsCA	ENSP00000453513.2:n.2191+333_2191+334delinsCA
ENST00000558518.6:c.2311+333_2311+334delinsCA MANE Select	ENSP00000454071.1:n.2311+333_2311+334delinsCA
ENST00000252444.9:c.2565+333_2565+334delinsCA
ENST00000455727.6:c.1807+333_1807+334delinsCA	ENSP00000397829.2:n.1807+333_1807+334delinsCA
ENST00000535915.5:c.2188+333_2188+334delinsCA	ENSP00000440520.1:n.2188+333_2188+334delinsCA
ENST00000545707.5:c.1777+333_1777+334delinsCA	ENSP00000437639.1:n.1777+333_1777+334delinsCA
ENST00000557933.5:c.2311+333_2311+334delinsCA	ENSP00000453557.1:n.2311+333_2311+334delinsCA
ENST00000558013.5:c.2311+333_2311+334delinsCA	ENSP00000453346.1:n.2311+333_2311+334delinsCA
ENST00000558518.5:c.2311+333_2311+334delinsCA	ENSP00000454071.1:n.2311+333_2311+334delinsCA
NM_000527.4:c.2311+333_2311+334delinsCA , LRG_274t1:c.2311+333_2311+334delinsCA	NP_000518.1:n.2311+333_2311+334delinsCA
NM_001195798.1:c.2311+333_2311+334delinsCA	NP_001182727.1:n.2311+333_2311+334delinsCA
NM_001195799.1:c.2188+333_2188+334delinsCA	NP_001182728.1:n.2188+333_2188+334delinsCA
NM_001195800.1:c.1807+333_1807+334delinsCA	NP_001182729.1:n.1807+333_1807+334delinsCA
NM_001195803.1:c.1777+333_1777+334delinsCA	NP_001182732.1:n.1777+333_1777+334delinsCA
XM_011528010.1:c.2311+333_2311+334delinsCA	XP_011526312.1:n.2311+333_2311+334delinsCA
XM_011528011.1:c.1930+333_1930+334delinsCA	XP_011526313.1:n.1930+333_1930+334delinsCA
XR_244074.2:n.2321+333_2321+334delinsCA
XM_011528010.2:c.2311+333_2311+334delinsCA	XP_011526312.1:n.2311+333_2311+334delinsCA
XR_001753685.2:n.2645+333_2645+334delinsCA
XR_001753686.2:n.2288+333_2288+334delinsCA
NM_000527.5:c.2311+333_2311+334delinsCA MANE Select	NP_000518.1:n.2311+333_2311+334delinsCA
NM_001195798.2:c.2311+333_2311+334delinsCA	NP_001182727.1:n.2311+333_2311+334delinsCA
NM_001195799.2:c.2188+333_2188+334delinsCA	NP_001182728.1:n.2188+333_2188+334delinsCA
NM_001195800.2:c.1807+333_1807+334delinsCA	NP_001182729.1:n.1807+333_1807+334delinsCA
NM_001195803.2:c.1777+333_1777+334delinsCA	NP_001182732.1:n.1777+333_1777+334delinsCA