Canonical Allele Identifier: CA2091549599

Gene: ATP7B

Linked Data

• dbSNP Id: rs1958475520

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958150dup , CM000675.2:g.51958150dup	GRCh38
NC_000013.10:g.52532286dup , CM000675.1:g.52532286dup	GRCh37
NC_000013.9:g.51430287dup	NCBI36
NG_008806.1:g.58346dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*188+162dup	ENSP00000489512.2:n.*188+162dup
ENST00000673864.2:c.*1099+162dup	ENSP00000501045.2:n.*1099+162dup
ENST00000674147.2:c.1870-542dup	ENSP00000500964.2:n.1870-542dup
ENST00000242839.10:c.2355+162dup MANE Select	ENSP00000242839.5:n.2355+162dup
ENST00000344297.9:c.1870-542dup	ENSP00000342559.5:n.1870-542dup
ENST00000400366.6:c.2022+162dup	ENSP00000383217.3:n.2022+162dup
ENST00000448424.7:c.2103+162dup	ENSP00000416738.3:n.2103+162dup
ENST00000673772.1:c.2122-542dup	ENSP00000501168.1:n.2122-542dup
ENST00000674147.1:c.1426-542dup	ENSP00000500964.1:n.1426-542dup
ENST00000242839.8:c.2355+162dup	ENSP00000242839.4:n.2355+162dup
ENST00000344297.8:c.1870-542dup	ENSP00000342559.5:n.1870-542dup
ENST00000400366.5:c.2022+162dup	ENSP00000383217.3:n.2022+162dup
ENST00000400370.8:c.1286-7988dup	ENSP00000383221.3:n.1286-7988dup
ENST00000418097.7:c.2355+162dup	ENSP00000393343.2:n.2355+162dup
ENST00000448424.6:c.2122-542dup	ENSP00000416738.2:n.2122-542dup
ENST00000634296.1:c.316+162dup
ENST00000634308.1:c.2122-542dup	ENSP00000489234.1:n.2122-542dup
ENST00000634620.1:n.2612dup
ENST00000634810.1:n.1700+162dup
ENST00000634844.1:c.2211+162dup	ENSP00000489398.1:n.2211+162dup
ENST00000635406.1:n.212-11671dup
NM_000053.3:c.2355+162dup	NP_000044.2:n.2355+162dup
NM_001005918.2:c.1870-542dup	NP_001005918.1:n.1870-542dup
NM_001243182.1:c.2022+162dup	NP_001230111.1:n.2022+162dup
XM_005266423.2:c.2259+162dup	XP_005266480.1:n.2259+162dup
XM_005266424.3:c.2259+162dup	XP_005266481.1:n.2259+162dup
XM_005266427.2:c.2122-542dup	XP_005266484.1:n.2122-542dup
XM_005266428.1:c.2103+162dup	XP_005266485.1:n.2103+162dup
XM_005266430.3:c.2355+162dup	XP_005266487.1:n.2355+162dup
XM_005266431.2:c.2319+162dup	XP_005266488.1:n.2319+162dup
XM_005266432.2:c.1870-542dup	XP_005266489.1:n.1870-542dup
XM_006719837.2:c.2259+162dup	XP_006719900.1:n.2259+162dup
XM_006719838.1:c.171+162dup	XP_006719901.1:n.171+162dup
XM_006719839.1:c.171+162dup	XP_006719902.1:n.171+162dup
XM_011535117.1:c.2259+162dup	XP_011533419.1:n.2259+162dup
XM_011535118.1:c.2355+162dup	XP_011533420.1:n.2355+162dup
XM_011535119.1:c.2355+162dup	XP_011533421.1:n.2355+162dup
XM_011535120.1:c.1941+162dup	XP_011533422.1:n.1941+162dup
XM_011535121.1:c.2355+162dup	XP_011533423.1:n.2355+162dup
XM_011535122.1:c.1023+162dup	XP_011533424.1:n.1023+162dup
XR_941601.1:n.2574+162dup
XR_941602.1:n.2574+162dup
XR_941603.1:n.2574+162dup
XR_941604.1:n.2574+162dup
NM_001330578.1:c.2122-542dup	NP_001317507.1:n.2122-542dup
NM_001330579.1:c.2103+162dup	NP_001317508.1:n.2103+162dup
XM_005266424.4:c.2259+162dup	XP_005266481.1:n.2259+162dup
XM_005266430.4:c.2355+162dup	XP_005266487.1:n.2355+162dup
XM_005266431.4:c.2319+162dup	XP_005266488.1:n.2319+162dup
XM_006719837.3:c.2259+162dup	XP_006719900.1:n.2259+162dup
XM_011535117.3:c.2259+162dup	XP_011533419.1:n.2259+162dup
XM_017020627.1:c.2259+162dup	XP_016876116.1:n.2259+162dup
NM_000053.4:c.2355+162dup MANE Select	NP_000044.2:n.2355+162dup
NM_001005918.3:c.1870-542dup	NP_001005918.1:n.1870-542dup
NM_001330579.2:c.2103+162dup	NP_001317508.1:n.2103+162dup
NM_001243182.2:c.2022+162dup	NP_001230111.1:n.2022+162dup
NM_001330578.2:c.2122-542dup	NP_001317507.1:n.2122-542dup