Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123345_11123350delinsT , CM000681.2:g.11123345_11123350delinsT	GRCh38
NC_000019.9:g.11234021_11234026delinsT , CM000681.1:g.11234021_11234026delinsT	GRCh37
NC_000019.8:g.11095021_11095026delinsT	NCBI36
NG_009060.1:g.38965_38970delinsT , LRG_274:g.38965_38970delinsT

Transcript Alleles

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