Canonical Allele Identifier: CA2091542058

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1458497
• ClinVar RCV Id: RCV001956403 ; RCV002251598
• dbSNP Id: rs1957904411
• gnomAD v4: 13-51950132-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950135del , CM000675.2:g.51950135del	GRCh38
NC_000013.10:g.52524271del , CM000675.1:g.52524271del	GRCh37
NC_000013.9:g.51422272del	NCBI36
NG_008806.1:g.66362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*437del	ENSP00000489512.2:n.*437del
ENST00000673864.2:c.*1348del	ENSP00000501045.2:n.*1348del
ENST00000674147.2:c.2118del	ENSP00000500964.2:p.Gly707GlufsTer4
ENST00000242839.10:c.2604del MANE Select	ENSP00000242839.5:p.Gly869GlufsTer4
ENST00000344297.9:c.2118del	ENSP00000342559.5:p.Gly707GlufsTer4
ENST00000400366.6:c.2271del	ENSP00000383217.3:p.Gly758GlufsTer4
ENST00000448424.7:c.2352del	ENSP00000416738.3:p.Gly785GlufsTer4
ENST00000673772.1:c.2370del	ENSP00000501168.1:p.Gly791GlufsTer4
ENST00000674147.1:c.1674del	ENSP00000500964.1:p.Gly559GlufsTer4
ENST00000242839.8:c.2604del	ENSP00000242839.4:p.Gly869GlufsTer4
ENST00000344297.8:c.2118del	ENSP00000342559.5:p.Gly707GlufsTer4
ENST00000400366.5:c.2271del	ENSP00000383217.3:p.Gly758GlufsTer4
ENST00000400370.8:c.1314del	ENSP00000383221.3:p.Gly439GlufsTer4
ENST00000418097.7:c.2604del	ENSP00000393343.2:p.Gly869GlufsTer4
ENST00000448424.6:c.2370del	ENSP00000416738.2:p.Gly791GlufsTer4
ENST00000634296.1:c.565del
ENST00000634308.1:c.2370del	ENSP00000489234.1:p.Gly791GlufsTer4
ENST00000634620.1:n.3402del
ENST00000634810.1:n.1949del
ENST00000634844.1:c.2460del	ENSP00000489398.1:p.Gly821GlufsTer4
ENST00000635406.1:n.212-3655del
NM_000053.3:c.2604del	NP_000044.2:p.Gly869GlufsTer4
NM_001005918.2:c.2118del	NP_001005918.1:p.Gly707GlufsTer4
NM_001243182.1:c.2271del	NP_001230111.1:p.Gly758GlufsTer4
XM_005266423.2:c.2508del	XP_005266480.1:p.Gly837GlufsTer4
XM_005266424.3:c.2508del	XP_005266481.1:p.Gly837GlufsTer4
XM_005266427.2:c.2370del	XP_005266484.1:p.Gly791GlufsTer4
XM_005266428.1:c.2352del	XP_005266485.1:p.Gly785GlufsTer4
XM_005266430.3:c.2604del	XP_005266487.1:p.Gly869GlufsTer4
XM_005266431.2:c.2568del	XP_005266488.1:p.Gly857GlufsTer4
XM_005266432.2:c.2118del	XP_005266489.1:p.Gly707GlufsTer4
XM_006719837.2:c.2508del	XP_006719900.1:p.Gly837GlufsTer4
XM_006719838.1:c.420del	XP_006719901.1:p.Gly141GlufsTer4
XM_006719839.1:c.420del	XP_006719902.1:p.Gly141GlufsTer4
XM_011535117.1:c.2508del	XP_011533419.1:p.Gly837GlufsTer4
XM_011535118.1:c.2604del	XP_011533420.1:p.Gly869GlufsTer4
XM_011535119.1:c.2604del	XP_011533421.1:p.Gly869GlufsTer4
XM_011535120.1:c.2190del	XP_011533422.1:p.Gly731GlufsTer4
XM_011535121.1:c.2604del	XP_011533423.1:p.Gly869GlufsTer4
XM_011535122.1:c.1272del	XP_011533424.1:p.Gly425GlufsTer4
XR_941601.1:n.2823del
XR_941602.1:n.2823del
XR_941603.1:n.2823del
XR_941604.1:n.2823del
NM_001330578.1:c.2370del	NP_001317507.1:p.Gly791GlufsTer4
NM_001330579.1:c.2352del	NP_001317508.1:p.Gly785GlufsTer4
XM_005266424.4:c.2508del	XP_005266481.1:p.Gly837GlufsTer4
XM_005266430.4:c.2604del	XP_005266487.1:p.Gly869GlufsTer4
XM_005266431.4:c.2568del	XP_005266488.1:p.Gly857GlufsTer4
XM_006719837.3:c.2508del	XP_006719900.1:p.Gly837GlufsTer4
XM_011535117.3:c.2508del	XP_011533419.1:p.Gly837GlufsTer4
XM_017020627.1:c.2508del	XP_016876116.1:p.Gly837GlufsTer4
NM_000053.4:c.2604del MANE Select	NP_000044.2:p.Gly869GlufsTer4
NM_001005918.3:c.2118del	NP_001005918.1:p.Gly707GlufsTer4
NM_001330579.2:c.2352del	NP_001317508.1:p.Gly785GlufsTer4
NM_001243182.2:c.2271del	NP_001230111.1:p.Gly758GlufsTer4
NM_001330578.2:c.2370del	NP_001317507.1:p.Gly791GlufsTer4