Allele Registry

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Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090336_4090338delinsCCT , CM000681.2:g.4090336_4090338delinsCCT	GRCh38
NC_000019.9:g.4090334_4090336delinsCCT , CM000681.1:g.4090334_4090336delinsCCT	GRCh37
NC_000019.8:g.4041334_4041336delinsCCT	NCBI36
NG_007996.1:g.38791_38793delinsAGG , LRG_750:g.38791_38793delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689792.1:n.1367_1369delinsAGG
ENST00000262948.10:c.260_262delinsAGG MANE Select	ENSP00000262948.4:n.260_262delinsAGG
ENST00000262948.9:c.260_262delinsAGG	ENSP00000262948.3:n.260_262delinsAGG
ENST00000394867.8:c.260_262delinsAGG	ENSP00000378336.1:n.260_262delinsAGG
ENST00000600584.5:n.2912_2914delinsAGG
ENST00000601786.5:n.1764_1766delinsAGG
NM_030662.3:c.260_262delinsAGG , LRG_750t1:c.260_262delinsAGG	NP_109587.1:n.260_262delinsAGG
XM_006722799.2:c.260_262delinsAGG	XP_006722862.1:n.260_262delinsAGG
XM_011528133.1:c.260_262delinsAGG	XP_011526435.1:n.260_262delinsAGG
NM_030662.4:c.260_262delinsAGG MANE Select	NP_109587.1:n.260_262delinsAGG

HGVS	Amino-acid Change
ENST00000689792.1:n.1367_1369delinsAGG
ENST00000262948.10:c.260_262delinsAGG MANE Select	ENSP00000262948.4:n.260_262delinsAGG
ENST00000262948.9:c.260_262delinsAGG	ENSP00000262948.3:n.260_262delinsAGG
ENST00000394867.8:c.260_262delinsAGG	ENSP00000378336.1:n.260_262delinsAGG
ENST00000600584.5:n.2912_2914delinsAGG
ENST00000601786.5:n.1764_1766delinsAGG
NM_030662.3:c.260_262delinsAGG , LRG_750t1:c.260_262delinsAGG	NP_109587.1:n.260_262delinsAGG
XM_006722799.2:c.260_262delinsAGG	XP_006722862.1:n.260_262delinsAGG
XM_011528133.1:c.260_262delinsAGG	XP_011526435.1:n.260_262delinsAGG
NM_030662.4:c.260_262delinsAGG MANE Select	NP_109587.1:n.260_262delinsAGG