Canonical Allele Identifier: CA2593284261

Gene: ATP7B

Linked Data

• dbSNP Id: rs2139777530
• gnomAD v3: 13-51965002-T-TCTCC
• gnomAD v4: 13-51965002-T-TCTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51965002_51965003insCTCC , CM000675.2:g.51965002_51965003insCTCC	GRCh38
NC_000013.10:g.52539138_52539139insCTCC , CM000675.1:g.52539138_52539139insCTCC	GRCh37
NC_000013.9:g.51437139_51437140insCTCC	NCBI36
NG_008806.1:g.51492_51493insGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1738_1739insGGAG	ENSP00000489512.2:p.His580ArgfsTer29
ENST00000673864.2:c.*482_*483insGGAG	ENSP00000501045.2:n.*482_*483insGGAG
ENST00000674147.2:c.1738_1739insGGAG	ENSP00000500964.2:p.His580ArgfsTer29
ENST00000242839.10:c.1738_1739insGGAG MANE Select	ENSP00000242839.5:p.His580ArgfsTer29
ENST00000344297.9:c.1738_1739insGGAG	ENSP00000342559.5:p.His580ArgfsTer29
ENST00000400366.6:c.1405_1406insGGAG	ENSP00000383217.3:p.His469ArgfsTer29
ENST00000448424.7:c.1738_1739insGGAG	ENSP00000416738.3:p.His580ArgfsTer29
ENST00000483772.2:n.494_495insGGAG
ENST00000673772.1:c.1738_1739insGGAG	ENSP00000501168.1:p.His580ArgfsTer29
ENST00000673864.1:c.932_933insGGAG	ENSP00000501045.1:n.932_933insGGAG
ENST00000674147.1:c.1294_1295insGGAG	ENSP00000500964.1:p.His432ArgfsTer29
ENST00000242839.8:c.1738_1739insGGAG	ENSP00000242839.4:p.His580ArgfsTer29
ENST00000344297.8:c.1738_1739insGGAG	ENSP00000342559.5:p.His580ArgfsTer29
ENST00000400366.5:c.1405_1406insGGAG	ENSP00000383217.3:p.His469ArgfsTer29
ENST00000400370.8:c.1285+8932_1285+8933insGGAG	ENSP00000383221.3:n.1285+8932_1285+8933insGGAG
ENST00000418097.7:c.1738_1739insGGAG	ENSP00000393343.2:p.His580ArgfsTer29
ENST00000448424.6:c.1738_1739insGGAG	ENSP00000416738.2:p.His580ArgfsTer29
ENST00000482841.6:n.1664+5489_1664+5490insGGAG
ENST00000483772.1:n.494_495insGGAG
ENST00000634308.1:c.1738_1739insGGAG	ENSP00000489234.1:p.His580ArgfsTer29
ENST00000634620.1:n.230_231insGGAG
ENST00000634844.1:c.1738_1739insGGAG	ENSP00000489398.1:p.His580ArgfsTer29
ENST00000635406.1:n.212-18525_212-18524insGGAG
NM_000053.3:c.1738_1739insGGAG	NP_000044.2:p.His580ArgfsTer29
NM_001005918.2:c.1738_1739insGGAG	NP_001005918.1:p.His580ArgfsTer29
NM_001243182.1:c.1405_1406insGGAG	NP_001230111.1:p.His469ArgfsTer29
XM_005266423.2:c.1642_1643insGGAG	XP_005266480.1:p.His548ArgfsTer29
XM_005266424.3:c.1642_1643insGGAG	XP_005266481.1:p.His548ArgfsTer29
XM_005266427.2:c.1738_1739insGGAG	XP_005266484.1:p.His580ArgfsTer29
XM_005266428.1:c.1738_1739insGGAG	XP_005266485.1:p.His580ArgfsTer29
XM_005266430.3:c.1738_1739insGGAG	XP_005266487.1:p.His580ArgfsTer29
XM_005266431.2:c.1702_1703insGGAG	XP_005266488.1:p.His568ArgfsTer29
XM_005266432.2:c.1738_1739insGGAG	XP_005266489.1:p.His580ArgfsTer29
XM_006719837.2:c.1642_1643insGGAG	XP_006719900.1:p.His548ArgfsTer29
XM_011535117.1:c.1642_1643insGGAG	XP_011533419.1:p.His548ArgfsTer29
XM_011535118.1:c.1738_1739insGGAG	XP_011533420.1:p.His580ArgfsTer29
XM_011535119.1:c.1738_1739insGGAG	XP_011533421.1:p.His580ArgfsTer29
XM_011535120.1:c.1707+3441_1707+3442insGGAG	XP_011533422.1:n.1707+3441_1707+3442insGGAG
XM_011535121.1:c.1738_1739insGGAG	XP_011533423.1:p.His580ArgfsTer29
XM_011535122.1:c.406_407insGGAG	XP_011533424.1:p.His136ArgfsTer29
XR_941601.1:n.1957_1958insGGAG
XR_941602.1:n.1957_1958insGGAG
XR_941603.1:n.1957_1958insGGAG
XR_941604.1:n.1957_1958insGGAG
NM_001330578.1:c.1738_1739insGGAG	NP_001317507.1:p.His580ArgfsTer29
NM_001330579.1:c.1738_1739insGGAG	NP_001317508.1:p.His580ArgfsTer29
XM_005266424.4:c.1642_1643insGGAG	XP_005266481.1:p.His548ArgfsTer29
XM_005266430.4:c.1738_1739insGGAG	XP_005266487.1:p.His580ArgfsTer29
XM_005266431.4:c.1702_1703insGGAG	XP_005266488.1:p.His568ArgfsTer29
XM_006719837.3:c.1642_1643insGGAG	XP_006719900.1:p.His548ArgfsTer29
XM_011535117.3:c.1642_1643insGGAG	XP_011533419.1:p.His548ArgfsTer29
XM_017020627.1:c.1642_1643insGGAG	XP_016876116.1:p.His548ArgfsTer29
NM_000053.4:c.1738_1739insGGAG MANE Select	NP_000044.2:p.His580ArgfsTer29
NM_001005918.3:c.1738_1739insGGAG	NP_001005918.1:p.His580ArgfsTer29
NM_001330579.2:c.1738_1739insGGAG	NP_001317508.1:p.His580ArgfsTer29
NM_001243182.2:c.1405_1406insGGAG	NP_001230111.1:p.His469ArgfsTer29
NM_001330578.2:c.1738_1739insGGAG	NP_001317507.1:p.His580ArgfsTer29