Canonical Allele Identifier: CA2573149669

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1455515
• ClinVar RCV Id: RCV001970041
• dbSNP Id: rs2140080841

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51974239_51974270dup , CM000675.2:g.51974239_51974270dup	GRCh38
NC_000013.10:g.52548375_52548406dup , CM000675.1:g.52548375_52548406dup	GRCh37
NC_000013.9:g.51446376_51446407dup	NCBI36
NG_008806.1:g.42226_42257dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.951_982dup	ENSP00000489512.2:p.Pro328HisfsTer?
ENST00000673864.2:c.951_982dup	ENSP00000501045.2:p.Pro328HisfsTer?
ENST00000674147.2:c.951_982dup	ENSP00000500964.2:p.Pro328HisfsTer?
ENST00000242839.10:c.951_982dup MANE Select	ENSP00000242839.5:p.Pro328HisfsTer?
ENST00000344297.9:c.951_982dup	ENSP00000342559.5:p.Pro328HisfsTer?
ENST00000400366.6:c.802+149_803-154dup	ENSP00000383217.3:n.802+149_803-154dup
ENST00000448424.7:c.951_982dup	ENSP00000416738.3:p.Pro328HisfsTer?
ENST00000673772.1:c.951_982dup	ENSP00000501168.1:p.Pro328HisfsTer?
ENST00000674078.1:n.1056_1087dup
ENST00000674147.1:c.507_538dup	ENSP00000500964.1:p.Pro180HisfsTer?
ENST00000242839.8:c.951_982dup	ENSP00000242839.4:p.Pro328HisfsTer?
ENST00000344297.8:c.951_982dup	ENSP00000342559.5:p.Pro328HisfsTer?
ENST00000400366.5:c.802+149_803-154dup	ENSP00000383217.3:n.802+149_803-154dup
ENST00000400370.8:c.951_982dup	ENSP00000383221.3:p.Pro328HisfsTer?
ENST00000418097.7:c.951_982dup	ENSP00000393343.2:p.Pro328HisfsTer?
ENST00000448424.6:c.951_982dup	ENSP00000416738.2:p.Pro328HisfsTer?
ENST00000482841.6:n.1072_1103dup
ENST00000634308.1:c.951_982dup	ENSP00000489234.1:p.Pro328HisfsTer?
ENST00000634844.1:c.951_982dup	ENSP00000489398.1:p.Pro328HisfsTer?
ENST00000635406.1:n.212-27791_212-27760dup
NM_000053.3:c.951_982dup	NP_000044.2:p.Pro328HisfsTer?
NM_001005918.2:c.951_982dup	NP_001005918.1:p.Pro328HisfsTer?
NM_001243182.1:c.802+149_803-154dup	NP_001230111.1:n.802+149_803-154dup
XM_005266423.2:c.855_886dup	XP_005266480.1:p.Pro296HisfsTer?
XM_005266424.3:c.855_886dup	XP_005266481.1:p.Pro296HisfsTer?
XM_005266427.2:c.951_982dup	XP_005266484.1:p.Pro328HisfsTer?
XM_005266428.1:c.951_982dup	XP_005266485.1:p.Pro328HisfsTer?
XM_005266430.3:c.951_982dup	XP_005266487.1:p.Pro328HisfsTer?
XM_005266431.2:c.915_946dup	XP_005266488.1:p.Pro316HisfsTer?
XM_005266432.2:c.951_982dup	XP_005266489.1:p.Pro328HisfsTer?
XM_006719837.2:c.855_886dup	XP_006719900.1:p.Pro296HisfsTer?
XM_011535117.1:c.855_886dup	XP_011533419.1:p.Pro296HisfsTer?
XM_011535118.1:c.951_982dup	XP_011533420.1:p.Pro328HisfsTer?
XM_011535119.1:c.951_982dup	XP_011533421.1:p.Pro328HisfsTer?
XM_011535120.1:c.951_982dup	XP_011533422.1:p.Pro328HisfsTer?
XM_011535121.1:c.951_982dup	XP_011533423.1:p.Pro328HisfsTer?
XR_941601.1:n.1170_1201dup
XR_941602.1:n.1170_1201dup
XR_941603.1:n.1170_1201dup
XR_941604.1:n.1170_1201dup
NM_001330578.1:c.951_982dup	NP_001317507.1:p.Pro328HisfsTer?
NM_001330579.1:c.951_982dup	NP_001317508.1:p.Pro328HisfsTer?
XM_005266424.4:c.855_886dup	XP_005266481.1:p.Pro296HisfsTer?
XM_005266430.4:c.951_982dup	XP_005266487.1:p.Pro328HisfsTer?
XM_005266431.4:c.915_946dup	XP_005266488.1:p.Pro316HisfsTer?
XM_006719837.3:c.855_886dup	XP_006719900.1:p.Pro296HisfsTer?
XM_011535117.3:c.855_886dup	XP_011533419.1:p.Pro296HisfsTer?
XM_017020627.1:c.855_886dup	XP_016876116.1:p.Pro296HisfsTer?
NM_000053.4:c.951_982dup MANE Select	NP_000044.2:p.Pro328HisfsTer?
NM_001005918.3:c.951_982dup	NP_001005918.1:p.Pro328HisfsTer?
NM_001330579.2:c.951_982dup	NP_001317508.1:p.Pro328HisfsTer?
NM_001243182.2:c.802+149_803-154dup	NP_001230111.1:n.802+149_803-154dup
NM_001330578.2:c.951_982dup	NP_001317507.1:p.Pro328HisfsTer?