Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107456_11107457delinsAG , CM000681.2:g.11107456_11107457delinsAG	GRCh38
NC_000019.9:g.11218132_11218133delinsAG , CM000681.1:g.11218132_11218133delinsAG	GRCh37
NC_000019.8:g.11079132_11079133delinsAG	NCBI36
NG_009060.1:g.23076_23077delinsAG , LRG_274:g.23076_23077delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1140_1141delinsAG	ENSP00000252444.6:p.Lys380=
ENST00000559340.2:c.882_883delinsAG	ENSP00000453696.2:p.Lys294=
ENST00000560467.2:c.882_883delinsAG	ENSP00000453513.2:p.Lys294=
ENST00000558518.6:c.882_883delinsAG MANE Select	ENSP00000454071.1:p.Lys294=
ENST00000252444.9:c.1136_1137delinsAG
ENST00000455727.6:c.378_379delinsAG	ENSP00000397829.2:p.Lys126=
ENST00000535915.5:c.759_760delinsAG	ENSP00000440520.1:p.Lys253=
ENST00000545707.5:c.501_502delinsAG	ENSP00000437639.1:p.Lys167=
ENST00000557933.5:c.882_883delinsAG	ENSP00000453557.1:p.Lys294=
ENST00000558013.5:c.882_883delinsAG	ENSP00000453346.1:p.Lys294=
ENST00000558518.5:c.882_883delinsAG	ENSP00000454071.1:p.Lys294=
ENST00000558528.1:n.397_398delinsAG
ENST00000560467.1:c.482_483delinsAG
NM_000527.4:c.882_883delinsAG , LRG_274t1:c.882_883delinsAG	NP_000518.1:p.Lys294=
NM_001195798.1:c.882_883delinsAG	NP_001182727.1:p.Lys294=
NM_001195799.1:c.759_760delinsAG	NP_001182728.1:p.Lys253=
NM_001195800.1:c.378_379delinsAG	NP_001182729.1:p.Lys126=
NM_001195803.1:c.501_502delinsAG	NP_001182732.1:p.Lys167=
XM_011528010.1:c.882_883delinsAG	XP_011526312.1:p.Lys294=
XM_011528011.1:c.501_502delinsAG	XP_011526313.1:p.Lys167=
XR_244074.2:n.1032_1033delinsAG
XM_011528010.2:c.882_883delinsAG	XP_011526312.1:p.Lys294=
XR_001753685.2:n.999_1000delinsAG
XR_001753686.2:n.999_1000delinsAG
NM_000527.5:c.882_883delinsAG MANE Select	NP_000518.1:p.Lys294=
NM_001195798.2:c.882_883delinsAG	NP_001182727.1:p.Lys294=
NM_001195799.2:c.759_760delinsAG	NP_001182728.1:p.Lys253=
NM_001195800.2:c.378_379delinsAG	NP_001182729.1:p.Lys126=
NM_001195803.2:c.501_502delinsAG	NP_001182732.1:p.Lys167=