Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123565_11123567delinsCAT , CM000681.2:g.11123565_11123567delinsCAT	GRCh38
NC_000019.9:g.11234241_11234243delinsCAT , CM000681.1:g.11234241_11234243delinsCAT	GRCh37
NC_000019.8:g.11095241_11095243delinsCAT	NCBI36
NG_009060.1:g.39185_39187delinsCAT , LRG_274:g.39185_39187delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2569+221_2569+223delinsCAT	ENSP00000252444.6:n.2569+221_2569+223delinsCAT
ENST00000559340.2:c.380+221_380+223delinsCAT	ENSP00000453696.2:n.380+221_380+223delinsCAT
ENST00000560467.2:c.2191+221_2191+223delinsCAT	ENSP00000453513.2:n.2191+221_2191+223delinsCAT
ENST00000558518.6:c.2311+221_2311+223delinsCAT MANE Select	ENSP00000454071.1:n.2311+221_2311+223delinsCAT
ENST00000252444.9:c.2565+221_2565+223delinsCAT
ENST00000455727.6:c.1807+221_1807+223delinsCAT	ENSP00000397829.2:n.1807+221_1807+223delinsCAT
ENST00000535915.5:c.2188+221_2188+223delinsCAT	ENSP00000440520.1:n.2188+221_2188+223delinsCAT
ENST00000545707.5:c.1777+221_1777+223delinsCAT	ENSP00000437639.1:n.1777+221_1777+223delinsCAT
ENST00000557933.5:c.2311+221_2311+223delinsCAT	ENSP00000453557.1:n.2311+221_2311+223delinsCAT
ENST00000558013.5:c.2311+221_2311+223delinsCAT	ENSP00000453346.1:n.2311+221_2311+223delinsCAT
ENST00000558518.5:c.2311+221_2311+223delinsCAT	ENSP00000454071.1:n.2311+221_2311+223delinsCAT
NM_000527.4:c.2311+221_2311+223delinsCAT , LRG_274t1:c.2311+221_2311+223delinsCAT	NP_000518.1:n.2311+221_2311+223delinsCAT
NM_001195798.1:c.2311+221_2311+223delinsCAT	NP_001182727.1:n.2311+221_2311+223delinsCAT
NM_001195799.1:c.2188+221_2188+223delinsCAT	NP_001182728.1:n.2188+221_2188+223delinsCAT
NM_001195800.1:c.1807+221_1807+223delinsCAT	NP_001182729.1:n.1807+221_1807+223delinsCAT
NM_001195803.1:c.1777+221_1777+223delinsCAT	NP_001182732.1:n.1777+221_1777+223delinsCAT
XM_011528010.1:c.2311+221_2311+223delinsCAT	XP_011526312.1:n.2311+221_2311+223delinsCAT
XM_011528011.1:c.1930+221_1930+223delinsCAT	XP_011526313.1:n.1930+221_1930+223delinsCAT
XR_244074.2:n.2321+221_2321+223delinsCAT
XM_011528010.2:c.2311+221_2311+223delinsCAT	XP_011526312.1:n.2311+221_2311+223delinsCAT
XR_001753685.2:n.2645+221_2645+223delinsCAT
XR_001753686.2:n.2288+221_2288+223delinsCAT
NM_000527.5:c.2311+221_2311+223delinsCAT MANE Select	NP_000518.1:n.2311+221_2311+223delinsCAT
NM_001195798.2:c.2311+221_2311+223delinsCAT	NP_001182727.1:n.2311+221_2311+223delinsCAT
NM_001195799.2:c.2188+221_2188+223delinsCAT	NP_001182728.1:n.2188+221_2188+223delinsCAT
NM_001195800.2:c.1807+221_1807+223delinsCAT	NP_001182729.1:n.1807+221_1807+223delinsCAT
NM_001195803.2:c.1777+221_1777+223delinsCAT	NP_001182732.1:n.1777+221_1777+223delinsCAT