Canonical Allele Identifier: CA274391

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 189112
• ClinVar RCV Id: RCV000169524 ; RCV000726071 ; RCV001640260 ; RCV002399599
• dbSNP Id: rs753962912
• ExAC: 13:52539130 CTA / C
• gnomAD v2: 13-52539130-CTA-C
• gnomAD v3: 13-51964994-CTA-C
• gnomAD v4: 13-51964994-CTA-C
• MyVariant Identifiers: chr13:g.52539131_52539132del (hg19) ; chr13:g.51964996_51964997del (hg38) ; chr13:g.51964995_51964996del (hg38)
• PubMed: PMID:10544227 ; PMID:17317524 ; PMID:17949296 ; PMID:23518715

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51964996_51964997del , CM000675.2:g.51964996_51964997del	GRCh38
NC_000013.10:g.52539132_52539133del , CM000675.1:g.52539132_52539133del	GRCh37
NC_000013.9:g.51437133_51437134del	NCBI36
NG_008806.1:g.51499_51500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1745_1746del	ENSP00000489512.2:p.Ile582ArgfsTer25
ENST00000673864.2:c.*489_*490del	ENSP00000501045.2:n.*489_*490del
ENST00000674147.2:c.1745_1746del	ENSP00000500964.2:p.Ile582ArgfsTer25
ENST00000242839.10:c.1745_1746del MANE Select	ENSP00000242839.5:p.Ile582ArgfsTer25
ENST00000344297.9:c.1745_1746del	ENSP00000342559.5:p.Ile582ArgfsTer25
ENST00000400366.6:c.1412_1413del	ENSP00000383217.3:p.Ile471ArgfsTer25
ENST00000448424.7:c.1745_1746del	ENSP00000416738.3:p.Ile582ArgfsTer25
ENST00000483772.2:n.501_502del
ENST00000673772.1:c.1745_1746del	ENSP00000501168.1:p.Ile582ArgfsTer25
ENST00000673864.1:c.939_940del	ENSP00000501045.1:n.939_940del
ENST00000674147.1:c.1301_1302del	ENSP00000500964.1:p.Ile434ArgfsTer25
ENST00000242839.8:c.1745_1746del	ENSP00000242839.4:p.Ile582ArgfsTer25
ENST00000344297.8:c.1745_1746del	ENSP00000342559.5:p.Ile582ArgfsTer25
ENST00000400366.5:c.1412_1413del	ENSP00000383217.3:p.Ile471ArgfsTer25
ENST00000400370.8:c.1285+8939_1285+8940del	ENSP00000383221.3:n.1285+8939_1285+8940del
ENST00000418097.7:c.1745_1746del	ENSP00000393343.2:p.Ile582ArgfsTer25
ENST00000448424.6:c.1745_1746del	ENSP00000416738.2:p.Ile582ArgfsTer25
ENST00000482841.6:n.1664+5496_1664+5497del
ENST00000483772.1:n.501_502del
ENST00000634308.1:c.1745_1746del	ENSP00000489234.1:p.Ile582ArgfsTer25
ENST00000634620.1:n.237_238del
ENST00000634844.1:c.1745_1746del	ENSP00000489398.1:p.Ile582ArgfsTer25
ENST00000635406.1:n.212-18518_212-18517del
NM_000053.3:c.1745_1746del	NP_000044.2:p.Ile582ArgfsTer25
NM_001005918.2:c.1745_1746del	NP_001005918.1:p.Ile582ArgfsTer25
NM_001243182.1:c.1412_1413del	NP_001230111.1:p.Ile471ArgfsTer25
XM_005266423.2:c.1649_1650del	XP_005266480.1:p.Ile550ArgfsTer25
XM_005266424.3:c.1649_1650del	XP_005266481.1:p.Ile550ArgfsTer25
XM_005266427.2:c.1745_1746del	XP_005266484.1:p.Ile582ArgfsTer25
XM_005266428.1:c.1745_1746del	XP_005266485.1:p.Ile582ArgfsTer25
XM_005266430.3:c.1745_1746del	XP_005266487.1:p.Ile582ArgfsTer25
XM_005266431.2:c.1709_1710del	XP_005266488.1:p.Ile570ArgfsTer25
XM_005266432.2:c.1745_1746del	XP_005266489.1:p.Ile582ArgfsTer25
XM_006719837.2:c.1649_1650del	XP_006719900.1:p.Ile550ArgfsTer25
XM_011535117.1:c.1649_1650del	XP_011533419.1:p.Ile550ArgfsTer25
XM_011535118.1:c.1745_1746del	XP_011533420.1:p.Ile582ArgfsTer25
XM_011535119.1:c.1745_1746del	XP_011533421.1:p.Ile582ArgfsTer25
XM_011535120.1:c.1707+3448_1707+3449del	XP_011533422.1:n.1707+3448_1707+3449del
XM_011535121.1:c.1745_1746del	XP_011533423.1:p.Ile582ArgfsTer25
XM_011535122.1:c.413_414del	XP_011533424.1:p.Ile138ArgfsTer25
XR_941601.1:n.1964_1965del
XR_941602.1:n.1964_1965del
XR_941603.1:n.1964_1965del
XR_941604.1:n.1964_1965del
NM_001330578.1:c.1745_1746del	NP_001317507.1:p.Ile582ArgfsTer25
NM_001330579.1:c.1745_1746del	NP_001317508.1:p.Ile582ArgfsTer25
XM_005266424.4:c.1649_1650del	XP_005266481.1:p.Ile550ArgfsTer25
XM_005266430.4:c.1745_1746del	XP_005266487.1:p.Ile582ArgfsTer25
XM_005266431.4:c.1709_1710del	XP_005266488.1:p.Ile570ArgfsTer25
XM_006719837.3:c.1649_1650del	XP_006719900.1:p.Ile550ArgfsTer25
XM_011535117.3:c.1649_1650del	XP_011533419.1:p.Ile550ArgfsTer25
XM_017020627.1:c.1649_1650del	XP_016876116.1:p.Ile550ArgfsTer25
NM_000053.4:c.1745_1746del MANE Select	NP_000044.2:p.Ile582ArgfsTer25
NM_001005918.3:c.1745_1746del	NP_001005918.1:p.Ile582ArgfsTer25
NM_001330579.2:c.1745_1746del	NP_001317508.1:p.Ile582ArgfsTer25
NM_001243182.2:c.1412_1413del	NP_001230111.1:p.Ile471ArgfsTer25
NM_001330578.2:c.1745_1746del	NP_001317507.1:p.Ile582ArgfsTer25