Canonical Allele Identifier: CA274227

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 188995
• ClinVar RCV Id: RCV000169375 ; RCV001291604 ; RCV003398867
• dbSNP Id: rs558037268
• gnomAD v3: 13-51974694-CTT-C
• gnomAD v4: 13-51974694-CTT-C
• MyVariant Identifiers: chr13:g.52548831_52548832del (hg19) ; chr13:g.51974695_51974696del (hg38)
• PubMed: PMID:23518715

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51974696_51974697del , CM000675.2:g.51974696_51974697del	GRCh38
NC_000013.10:g.52548832_52548833del , CM000675.1:g.52548832_52548833del	GRCh37
NC_000013.9:g.51446833_51446834del	NCBI36
NG_008806.1:g.41799_41800del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.524_525del	ENSP00000489512.2:p.Lys175SerfsTer28
ENST00000673864.2:c.524_525del	ENSP00000501045.2:p.Lys175SerfsTer28
ENST00000674147.2:c.524_525del	ENSP00000500964.2:p.Lys175SerfsTer28
ENST00000242839.10:c.524_525del MANE Select	ENSP00000242839.5:p.Lys175SerfsTer28
ENST00000344297.9:c.524_525del	ENSP00000342559.5:p.Lys175SerfsTer28
ENST00000400366.6:c.524_525del	ENSP00000383217.3:p.Lys175SerfsTer28
ENST00000448424.7:c.524_525del	ENSP00000416738.3:p.Lys175SerfsTer28
ENST00000673772.1:c.524_525del	ENSP00000501168.1:p.Lys175SerfsTer28
ENST00000674078.1:n.629_630del
ENST00000674147.1:c.80_81del	ENSP00000500964.1:p.Lys27SerfsTer28
ENST00000242839.8:c.524_525del	ENSP00000242839.4:p.Lys175SerfsTer28
ENST00000344297.8:c.524_525del	ENSP00000342559.5:p.Lys175SerfsTer28
ENST00000400366.5:c.524_525del	ENSP00000383217.3:p.Lys175SerfsTer28
ENST00000400370.8:c.524_525del	ENSP00000383221.3:p.Lys175SerfsTer28
ENST00000418097.7:c.524_525del	ENSP00000393343.2:p.Lys175SerfsTer28
ENST00000448424.6:c.524_525del	ENSP00000416738.2:p.Lys175SerfsTer28
ENST00000482841.6:n.645_646del
ENST00000634308.1:c.524_525del	ENSP00000489234.1:p.Lys175SerfsTer28
ENST00000634844.1:c.524_525del	ENSP00000489398.1:p.Lys175SerfsTer28
ENST00000635406.1:n.212-28218_212-28217del
NM_000053.3:c.524_525del	NP_000044.2:p.Lys175SerfsTer28
NM_001005918.2:c.524_525del	NP_001005918.1:p.Lys175SerfsTer28
NM_001243182.1:c.524_525del	NP_001230111.1:p.Lys175SerfsTer28
XM_005266423.2:c.428_429del	XP_005266480.1:p.Lys143SerfsTer28
XM_005266424.3:c.428_429del	XP_005266481.1:p.Lys143SerfsTer28
XM_005266427.2:c.524_525del	XP_005266484.1:p.Lys175SerfsTer28
XM_005266428.1:c.524_525del	XP_005266485.1:p.Lys175SerfsTer28
XM_005266430.3:c.524_525del	XP_005266487.1:p.Lys175SerfsTer28
XM_005266431.2:c.488_489del	XP_005266488.1:p.Lys163SerfsTer28
XM_005266432.2:c.524_525del	XP_005266489.1:p.Lys175SerfsTer28
XM_006719837.2:c.428_429del	XP_006719900.1:p.Lys143SerfsTer28
XM_011535117.1:c.428_429del	XP_011533419.1:p.Lys143SerfsTer28
XM_011535118.1:c.524_525del	XP_011533420.1:p.Lys175SerfsTer28
XM_011535119.1:c.524_525del	XP_011533421.1:p.Lys175SerfsTer28
XM_011535120.1:c.524_525del	XP_011533422.1:p.Lys175SerfsTer28
XM_011535121.1:c.524_525del	XP_011533423.1:p.Lys175SerfsTer28
XR_941601.1:n.743_744del
XR_941602.1:n.743_744del
XR_941603.1:n.743_744del
XR_941604.1:n.743_744del
NM_001330578.1:c.524_525del	NP_001317507.1:p.Lys175SerfsTer28
NM_001330579.1:c.524_525del	NP_001317508.1:p.Lys175SerfsTer28
XM_005266424.4:c.428_429del	XP_005266481.1:p.Lys143SerfsTer28
XM_005266430.4:c.524_525del	XP_005266487.1:p.Lys175SerfsTer28
XM_005266431.4:c.488_489del	XP_005266488.1:p.Lys163SerfsTer28
XM_006719837.3:c.428_429del	XP_006719900.1:p.Lys143SerfsTer28
XM_011535117.3:c.428_429del	XP_011533419.1:p.Lys143SerfsTer28
XM_017020627.1:c.428_429del	XP_016876116.1:p.Lys143SerfsTer28
NM_000053.4:c.524_525del MANE Select	NP_000044.2:p.Lys175SerfsTer28
NM_001005918.3:c.524_525del	NP_001005918.1:p.Lys175SerfsTer28
NM_001330579.2:c.524_525del	NP_001317508.1:p.Lys175SerfsTer28
NM_001243182.2:c.524_525del	NP_001230111.1:p.Lys175SerfsTer28
NM_001330578.2:c.524_525del	NP_001317507.1:p.Lys175SerfsTer28