Canonical Allele Identifier: CA2623118850

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51937139-G-GAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937149_51937154dup , CM000675.2:g.51937149_51937154dup	GRCh38
NC_000013.10:g.52511285_52511290dup , CM000675.1:g.52511285_52511290dup	GRCh37
NC_000013.9:g.51409286_51409291dup	NCBI36
NG_008806.1:g.79350_79355dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1671+131_*1671+136dup	ENSP00000489512.2:n.*1671+131_*1671+136dup
ENST00000673864.2:c.*2765+131_*2765+136dup	ENSP00000501045.2:n.*2765+131_*2765+136dup
ENST00000674147.2:c.3400+131_3400+136dup	ENSP00000500964.2:n.3400+131_3400+136dup
ENST00000242839.10:c.4021+131_4021+136dup MANE Select	ENSP00000242839.5:n.4021+131_4021+136dup
ENST00000344297.9:c.3400+131_3400+136dup	ENSP00000342559.5:n.3400+131_3400+136dup
ENST00000400366.6:c.3688+131_3688+136dup	ENSP00000383217.3:n.3688+131_3688+136dup
ENST00000448424.7:c.3769+131_3769+136dup	ENSP00000416738.3:n.3769+131_3769+136dup
ENST00000673696.1:n.1344+131_1344+136dup
ENST00000673772.1:c.3787+131_3787+136dup	ENSP00000501168.1:n.3787+131_3787+136dup
ENST00000673867.1:n.4160+131_4160+136dup
ENST00000673923.1:n.887+131_887+136dup
ENST00000674147.1:c.2956+131_2956+136dup	ENSP00000500964.1:n.2956+131_2956+136dup
ENST00000242839.8:c.4021+131_4021+136dup	ENSP00000242839.4:n.4021+131_4021+136dup
ENST00000344297.8:c.3400+131_3400+136dup	ENSP00000342559.5:n.3400+131_3400+136dup
ENST00000400366.5:c.3688+131_3688+136dup	ENSP00000383217.3:n.3688+131_3688+136dup
ENST00000400370.8:c.2731+131_2731+136dup	ENSP00000383221.3:n.2731+131_2731+136dup
ENST00000418097.7:c.3826+131_3826+136dup	ENSP00000393343.2:n.3826+131_3826+136dup
ENST00000448424.6:c.3787+131_3787+136dup	ENSP00000416738.2:n.3787+131_3787+136dup
ENST00000634296.1:c.1799+131_1799+136dup
ENST00000634308.1:c.*1122+131_*1122+136dup	ENSP00000489234.1:n.*1122+131_*1122+136dup
ENST00000634620.1:n.4765+131_4765+136dup
ENST00000634810.1:n.3366+131_3366+136dup
ENST00000634844.1:c.3877+131_3877+136dup	ENSP00000489398.1:n.3877+131_3877+136dup
NM_000053.3:c.4021+131_4021+136dup	NP_000044.2:n.4021+131_4021+136dup
NM_001005918.2:c.3400+131_3400+136dup	NP_001005918.1:n.3400+131_3400+136dup
NM_001243182.1:c.3688+131_3688+136dup	NP_001230111.1:n.3688+131_3688+136dup
XM_005266423.2:c.3925+131_3925+136dup	XP_005266480.1:n.3925+131_3925+136dup
XM_005266424.3:c.3925+131_3925+136dup	XP_005266481.1:n.3925+131_3925+136dup
XM_005266427.2:c.3787+131_3787+136dup	XP_005266484.1:n.3787+131_3787+136dup
XM_005266428.1:c.3769+131_3769+136dup	XP_005266485.1:n.3769+131_3769+136dup
XM_005266430.3:c.4021+131_4021+136dup	XP_005266487.1:n.4021+131_4021+136dup
XM_005266431.2:c.3985+131_3985+136dup	XP_005266488.1:n.3985+131_3985+136dup
XM_005266432.2:c.3535+131_3535+136dup	XP_005266489.1:n.3535+131_3535+136dup
XM_006719837.2:c.3925+131_3925+136dup	XP_006719900.1:n.3925+131_3925+136dup
XM_006719838.1:c.1837+131_1837+136dup	XP_006719901.1:n.1837+131_1837+136dup
XM_006719839.1:c.1654+131_1654+136dup	XP_006719902.1:n.1654+131_1654+136dup
XM_011535117.1:c.3925+131_3925+136dup	XP_011533419.1:n.3925+131_3925+136dup
XM_011535118.1:c.3886+131_3886+136dup	XP_011533420.1:n.3886+131_3886+136dup
XM_011535119.1:c.3838+131_3838+136dup	XP_011533421.1:n.3838+131_3838+136dup
XM_011535120.1:c.3607+131_3607+136dup	XP_011533422.1:n.3607+131_3607+136dup
XM_011535121.1:c.3508+131_3508+136dup	XP_011533423.1:n.3508+131_3508+136dup
XM_011535122.1:c.2689+131_2689+136dup	XP_011533424.1:n.2689+131_2689+136dup
XR_941601.1:n.4240+131_4240+136dup
XR_941602.1:n.4240+131_4240+136dup
XR_941603.1:n.4240+131_4240+136dup
XR_941604.1:n.4240+131_4240+136dup
NM_001330578.1:c.3787+131_3787+136dup	NP_001317507.1:n.3787+131_3787+136dup
NM_001330579.1:c.3769+131_3769+136dup	NP_001317508.1:n.3769+131_3769+136dup
XM_005266424.4:c.3925+131_3925+136dup	XP_005266481.1:n.3925+131_3925+136dup
XM_005266430.4:c.4021+131_4021+136dup	XP_005266487.1:n.4021+131_4021+136dup
XM_005266431.4:c.3985+131_3985+136dup	XP_005266488.1:n.3985+131_3985+136dup
XM_006719837.3:c.3925+131_3925+136dup	XP_006719900.1:n.3925+131_3925+136dup
XM_011535117.3:c.3925+131_3925+136dup	XP_011533419.1:n.3925+131_3925+136dup
XM_017020627.1:c.3925+131_3925+136dup	XP_016876116.1:n.3925+131_3925+136dup
NM_000053.4:c.4021+131_4021+136dup MANE Select	NP_000044.2:n.4021+131_4021+136dup
NM_001005918.3:c.3400+131_3400+136dup	NP_001005918.1:n.3400+131_3400+136dup
NM_001330579.2:c.3769+131_3769+136dup	NP_001317508.1:n.3769+131_3769+136dup
NM_001243182.2:c.3688+131_3688+136dup	NP_001230111.1:n.3688+131_3688+136dup
NM_001330578.2:c.3787+131_3787+136dup	NP_001317507.1:n.3787+131_3787+136dup