Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123708_11123709delinsAG , CM000681.2:g.11123708_11123709delinsAG	GRCh38
NC_000019.9:g.11234384_11234385delinsAG , CM000681.1:g.11234384_11234385delinsAG	GRCh37
NC_000019.8:g.11095384_11095385delinsAG	NCBI36
NG_009060.1:g.39328_39329delinsAG , LRG_274:g.39328_39329delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2569+364_2569+365delinsAG	ENSP00000252444.6:n.2569+364_2569+365delinsAG
ENST00000559340.2:c.380+364_380+365delinsAG	ENSP00000453696.2:n.380+364_380+365delinsAG
ENST00000560467.2:c.2191+364_2191+365delinsAG	ENSP00000453513.2:n.2191+364_2191+365delinsAG
ENST00000558518.6:c.2311+364_2311+365delinsAG MANE Select	ENSP00000454071.1:n.2311+364_2311+365delinsAG
ENST00000252444.9:c.2565+364_2565+365delinsAG
ENST00000455727.6:c.1807+364_1807+365delinsAG	ENSP00000397829.2:n.1807+364_1807+365delinsAG
ENST00000535915.5:c.2188+364_2188+365delinsAG	ENSP00000440520.1:n.2188+364_2188+365delinsAG
ENST00000545707.5:c.1777+364_1777+365delinsAG	ENSP00000437639.1:n.1777+364_1777+365delinsAG
ENST00000557933.5:c.2311+364_2311+365delinsAG	ENSP00000453557.1:n.2311+364_2311+365delinsAG
ENST00000558013.5:c.2311+364_2311+365delinsAG	ENSP00000453346.1:n.2311+364_2311+365delinsAG
ENST00000558518.5:c.2311+364_2311+365delinsAG	ENSP00000454071.1:n.2311+364_2311+365delinsAG
NM_000527.4:c.2311+364_2311+365delinsAG , LRG_274t1:c.2311+364_2311+365delinsAG	NP_000518.1:n.2311+364_2311+365delinsAG
NM_001195798.1:c.2311+364_2311+365delinsAG	NP_001182727.1:n.2311+364_2311+365delinsAG
NM_001195799.1:c.2188+364_2188+365delinsAG	NP_001182728.1:n.2188+364_2188+365delinsAG
NM_001195800.1:c.1807+364_1807+365delinsAG	NP_001182729.1:n.1807+364_1807+365delinsAG
NM_001195803.1:c.1777+364_1777+365delinsAG	NP_001182732.1:n.1777+364_1777+365delinsAG
XM_011528010.1:c.2311+364_2311+365delinsAG	XP_011526312.1:n.2311+364_2311+365delinsAG
XM_011528011.1:c.1930+364_1930+365delinsAG	XP_011526313.1:n.1930+364_1930+365delinsAG
XR_244074.2:n.2321+364_2321+365delinsAG
XM_011528010.2:c.2311+364_2311+365delinsAG	XP_011526312.1:n.2311+364_2311+365delinsAG
XR_001753685.2:n.2645+364_2645+365delinsAG
XR_001753686.2:n.2288+364_2288+365delinsAG
NM_000527.5:c.2311+364_2311+365delinsAG MANE Select	NP_000518.1:n.2311+364_2311+365delinsAG
NM_001195798.2:c.2311+364_2311+365delinsAG	NP_001182727.1:n.2311+364_2311+365delinsAG
NM_001195799.2:c.2188+364_2188+365delinsAG	NP_001182728.1:n.2188+364_2188+365delinsAG
NM_001195800.2:c.1807+364_1807+365delinsAG	NP_001182729.1:n.1807+364_1807+365delinsAG
NM_001195803.2:c.1777+364_1777+365delinsAG	NP_001182732.1:n.1777+364_1777+365delinsAG