Canonical Allele Identifier: CA274157

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 188938
• ClinVar RCV Id: RCV000169312 ; RCV001560289
• dbSNP Id: rs786204570
• gnomAD v2: 13-52548577-T-TG
• gnomAD v3: 13-51974441-T-TG
• gnomAD v4: 13-51974441-T-TG
• MyVariant Identifiers: chr13:g.52548578dupG (hg19) ; chr13:g.52548577_52548578insG (hg19) ; chr13:g.51974442dupG (hg38) ; chr13:g.51974441_51974442insG (hg38)
• PubMed: PMID:10980554 ; PMID:11216666 ; PMID:19172127 ; PMID:20082719

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51974443dup , CM000675.2:g.51974443dup	GRCh38
NC_000013.10:g.52548579dup , CM000675.1:g.52548579dup	GRCh37
NC_000013.9:g.51446580dup	NCBI36
NG_008806.1:g.42053dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.778dup	ENSP00000489512.2:p.Gln260ProfsTer10
ENST00000673864.2:c.778dup	ENSP00000501045.2:p.Gln260ProfsTer10
ENST00000674147.2:c.778dup	ENSP00000500964.2:p.Gln260ProfsTer10
ENST00000242839.10:c.778dup MANE Select	ENSP00000242839.5:p.Gln260ProfsTer10
ENST00000344297.9:c.778dup	ENSP00000342559.5:p.Gln260ProfsTer10
ENST00000400366.6:c.778dup	ENSP00000383217.3:p.Gln260ProfsTer?
ENST00000448424.7:c.778dup	ENSP00000416738.3:p.Gln260ProfsTer10
ENST00000673772.1:c.778dup	ENSP00000501168.1:p.Gln260ProfsTer10
ENST00000674078.1:n.883dup
ENST00000674147.1:c.334dup	ENSP00000500964.1:p.Gln112ProfsTer10
ENST00000242839.8:c.778dup	ENSP00000242839.4:p.Gln260ProfsTer10
ENST00000344297.8:c.778dup	ENSP00000342559.5:p.Gln260ProfsTer10
ENST00000400366.5:c.778dup	ENSP00000383217.3:p.Gln260ProfsTer?
ENST00000400370.8:c.778dup	ENSP00000383221.3:p.Gln260ProfsTer10
ENST00000418097.7:c.778dup	ENSP00000393343.2:p.Gln260ProfsTer10
ENST00000448424.6:c.778dup	ENSP00000416738.2:p.Gln260ProfsTer10
ENST00000482841.6:n.899dup
ENST00000634308.1:c.778dup	ENSP00000489234.1:p.Gln260ProfsTer10
ENST00000634844.1:c.778dup	ENSP00000489398.1:p.Gln260ProfsTer10
ENST00000635406.1:n.212-27964dup
NM_000053.3:c.778dup	NP_000044.2:p.Gln260ProfsTer10
NM_001005918.2:c.778dup	NP_001005918.1:p.Gln260ProfsTer10
NM_001243182.1:c.778dup	NP_001230111.1:p.Gln260ProfsTer?
XM_005266423.2:c.682dup	XP_005266480.1:p.Gln228ProfsTer10
XM_005266424.3:c.682dup	XP_005266481.1:p.Gln228ProfsTer10
XM_005266427.2:c.778dup	XP_005266484.1:p.Gln260ProfsTer10
XM_005266428.1:c.778dup	XP_005266485.1:p.Gln260ProfsTer10
XM_005266430.3:c.778dup	XP_005266487.1:p.Gln260ProfsTer10
XM_005266431.2:c.742dup	XP_005266488.1:p.Gln248ProfsTer10
XM_005266432.2:c.778dup	XP_005266489.1:p.Gln260ProfsTer10
XM_006719837.2:c.682dup	XP_006719900.1:p.Gln228ProfsTer10
XM_011535117.1:c.682dup	XP_011533419.1:p.Gln228ProfsTer10
XM_011535118.1:c.778dup	XP_011533420.1:p.Gln260ProfsTer10
XM_011535119.1:c.778dup	XP_011533421.1:p.Gln260ProfsTer10
XM_011535120.1:c.778dup	XP_011533422.1:p.Gln260ProfsTer10
XM_011535121.1:c.778dup	XP_011533423.1:p.Gln260ProfsTer10
XR_941601.1:n.997dup
XR_941602.1:n.997dup
XR_941603.1:n.997dup
XR_941604.1:n.997dup
NM_001330578.1:c.778dup	NP_001317507.1:p.Gln260ProfsTer10
NM_001330579.1:c.778dup	NP_001317508.1:p.Gln260ProfsTer10
XM_005266424.4:c.682dup	XP_005266481.1:p.Gln228ProfsTer10
XM_005266430.4:c.778dup	XP_005266487.1:p.Gln260ProfsTer10
XM_005266431.4:c.742dup	XP_005266488.1:p.Gln248ProfsTer10
XM_006719837.3:c.682dup	XP_006719900.1:p.Gln228ProfsTer10
XM_011535117.3:c.682dup	XP_011533419.1:p.Gln228ProfsTer10
XM_017020627.1:c.682dup	XP_016876116.1:p.Gln228ProfsTer10
NM_000053.4:c.778dup MANE Select	NP_000044.2:p.Gln260ProfsTer10
NM_001005918.3:c.778dup	NP_001005918.1:p.Gln260ProfsTer10
NM_001330579.2:c.778dup	NP_001317508.1:p.Gln260ProfsTer10
NM_001243182.2:c.778dup	NP_001230111.1:p.Gln260ProfsTer?
NM_001330578.2:c.778dup	NP_001317507.1:p.Gln260ProfsTer10