Canonical Allele Identifier: CA658823705

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 552840
• ClinVar RCV Id: RCV000668180
• dbSNP Id: rs1555286522
• MyVariant Identifiers: chr13:g.51944195dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944198dup , CM000675.2:g.51944198dup	GRCh38
NC_000013.10:g.52518334dup , CM000675.1:g.52518334dup	GRCh37
NC_000013.9:g.51416335dup	NCBI36
NG_008806.1:g.72300dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1641dup	ENSP00000489512.2:n.*894-1641dup
ENST00000673864.2:c.*1901dup	ENSP00000501045.2:n.*1901dup
ENST00000674147.2:c.2536dup	ENSP00000500964.2:p.Leu846ProfsTer16
ENST00000242839.10:c.3157dup MANE Select	ENSP00000242839.5:p.Leu1053ProfsTer16
ENST00000344297.9:c.2536dup	ENSP00000342559.5:p.Leu846ProfsTer16
ENST00000400366.6:c.2824dup	ENSP00000383217.3:p.Leu942ProfsTer16
ENST00000448424.7:c.2905dup	ENSP00000416738.3:p.Leu969ProfsTer16
ENST00000673772.1:c.2923dup	ENSP00000501168.1:p.Leu975ProfsTer16
ENST00000673867.1:n.3296dup
ENST00000674126.1:n.3520dup
ENST00000674147.1:c.2092dup	ENSP00000500964.1:p.Leu698ProfsTer16
ENST00000242839.8:c.3157dup	ENSP00000242839.4:p.Leu1053ProfsTer16
ENST00000344297.8:c.2536dup	ENSP00000342559.5:p.Leu846ProfsTer16
ENST00000400366.5:c.2824dup	ENSP00000383217.3:p.Leu942ProfsTer16
ENST00000400370.8:c.1867dup	ENSP00000383221.3:p.Leu623ProfsTer16
ENST00000418097.7:c.2962dup	ENSP00000393343.2:p.Leu988ProfsTer16
ENST00000448424.6:c.2923dup	ENSP00000416738.2:p.Leu975ProfsTer16
ENST00000466629.1:n.377dup
ENST00000634296.1:c.1022-1641dup
ENST00000634308.1:c.*258dup	ENSP00000489234.1:n.*258dup
ENST00000634620.1:n.3901dup
ENST00000634810.1:n.2502dup
ENST00000634844.1:c.3013dup	ENSP00000489398.1:p.Leu1005ProfsTer16
ENST00000635406.1:n.503dup
NM_000053.3:c.3157dup	NP_000044.2:p.Leu1053ProfsTer16
NM_001005918.2:c.2536dup	NP_001005918.1:p.Leu846ProfsTer16
NM_001243182.1:c.2824dup	NP_001230111.1:p.Leu942ProfsTer16
XM_005266423.2:c.3061dup	XP_005266480.1:p.Leu1021ProfsTer16
XM_005266424.3:c.3061dup	XP_005266481.1:p.Leu1021ProfsTer16
XM_005266427.2:c.2923dup	XP_005266484.1:p.Leu975ProfsTer16
XM_005266428.1:c.2905dup	XP_005266485.1:p.Leu969ProfsTer16
XM_005266430.3:c.3157dup	XP_005266487.1:p.Leu1053ProfsTer16
XM_005266431.2:c.3121dup	XP_005266488.1:p.Leu1041ProfsTer16
XM_005266432.2:c.2671dup	XP_005266489.1:p.Leu891ProfsTer16
XM_006719837.2:c.3061dup	XP_006719900.1:p.Leu1021ProfsTer16
XM_006719838.1:c.973dup	XP_006719901.1:p.Leu325ProfsTer16
XM_006719839.1:c.877-1641dup	XP_006719902.1:n.877-1641dup
XM_011535117.1:c.3061dup	XP_011533419.1:p.Leu1021ProfsTer16
XM_011535118.1:c.3022dup	XP_011533420.1:p.Leu1008ProfsTer16
XM_011535119.1:c.3061-1641dup	XP_011533421.1:n.3061-1641dup
XM_011535120.1:c.2743dup	XP_011533422.1:p.Leu915ProfsTer16
XM_011535121.1:c.2731-1641dup	XP_011533423.1:n.2731-1641dup
XM_011535122.1:c.1825dup	XP_011533424.1:p.Leu609ProfsTer16
XR_941601.1:n.3376dup
XR_941602.1:n.3376dup
XR_941603.1:n.3376dup
XR_941604.1:n.3376dup
NM_001330578.1:c.2923dup	NP_001317507.1:p.Leu975ProfsTer16
NM_001330579.1:c.2905dup	NP_001317508.1:p.Leu969ProfsTer16
XM_005266424.4:c.3061dup	XP_005266481.1:p.Leu1021ProfsTer16
XM_005266430.4:c.3157dup	XP_005266487.1:p.Leu1053ProfsTer16
XM_005266431.4:c.3121dup	XP_005266488.1:p.Leu1041ProfsTer16
XM_006719837.3:c.3061dup	XP_006719900.1:p.Leu1021ProfsTer16
XM_011535117.3:c.3061dup	XP_011533419.1:p.Leu1021ProfsTer16
XM_017020627.1:c.3061dup	XP_016876116.1:p.Leu1021ProfsTer16
NM_000053.4:c.3157dup MANE Select	NP_000044.2:p.Leu1053ProfsTer16
NM_001005918.3:c.2536dup	NP_001005918.1:p.Leu846ProfsTer16
NM_001330579.2:c.2905dup	NP_001317508.1:p.Leu969ProfsTer16
NM_001243182.2:c.2824dup	NP_001230111.1:p.Leu942ProfsTer16
NM_001330578.2:c.2923dup	NP_001317507.1:p.Leu975ProfsTer16