Canonical Allele Identifier: CA250073185

Gene: ATP7B

Linked Data

• dbSNP Id: rs57778802
• gnomAD v2: 13-52511275-GAAA-G
• gnomAD v3: 13-51937139-GAAA-G
• gnomAD v4: 13-51937139-GAAA-G
• MyVariant Identifiers: chr13:g.52511276_52511278del (hg19) ; chr13:g.51937140_51937142del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937152_51937154del , CM000675.2:g.51937152_51937154del	GRCh38
NC_000013.10:g.52511288_52511290del , CM000675.1:g.52511288_52511290del	GRCh37
NC_000013.9:g.51409289_51409291del	NCBI36
NG_008806.1:g.79353_79355del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1671+134_*1671+136del	ENSP00000489512.2:n.*1671+134_*1671+136del
ENST00000673864.2:c.*2765+134_*2765+136del	ENSP00000501045.2:n.*2765+134_*2765+136del
ENST00000674147.2:c.3400+134_3400+136del	ENSP00000500964.2:n.3400+134_3400+136del
ENST00000242839.10:c.4021+134_4021+136del MANE Select	ENSP00000242839.5:n.4021+134_4021+136del
ENST00000344297.9:c.3400+134_3400+136del	ENSP00000342559.5:n.3400+134_3400+136del
ENST00000400366.6:c.3688+134_3688+136del	ENSP00000383217.3:n.3688+134_3688+136del
ENST00000448424.7:c.3769+134_3769+136del	ENSP00000416738.3:n.3769+134_3769+136del
ENST00000673696.1:n.1344+134_1344+136del
ENST00000673772.1:c.3787+134_3787+136del	ENSP00000501168.1:n.3787+134_3787+136del
ENST00000673867.1:n.4160+134_4160+136del
ENST00000673923.1:n.887+134_887+136del
ENST00000674147.1:c.2956+134_2956+136del	ENSP00000500964.1:n.2956+134_2956+136del
ENST00000242839.8:c.4021+134_4021+136del	ENSP00000242839.4:n.4021+134_4021+136del
ENST00000344297.8:c.3400+134_3400+136del	ENSP00000342559.5:n.3400+134_3400+136del
ENST00000400366.5:c.3688+134_3688+136del	ENSP00000383217.3:n.3688+134_3688+136del
ENST00000400370.8:c.2731+134_2731+136del	ENSP00000383221.3:n.2731+134_2731+136del
ENST00000418097.7:c.3826+134_3826+136del	ENSP00000393343.2:n.3826+134_3826+136del
ENST00000448424.6:c.3787+134_3787+136del	ENSP00000416738.2:n.3787+134_3787+136del
ENST00000634296.1:c.1799+134_1799+136del
ENST00000634308.1:c.*1122+134_*1122+136del	ENSP00000489234.1:n.*1122+134_*1122+136del
ENST00000634620.1:n.4765+134_4765+136del
ENST00000634810.1:n.3366+134_3366+136del
ENST00000634844.1:c.3877+134_3877+136del	ENSP00000489398.1:n.3877+134_3877+136del
NM_000053.3:c.4021+134_4021+136del	NP_000044.2:n.4021+134_4021+136del
NM_001005918.2:c.3400+134_3400+136del	NP_001005918.1:n.3400+134_3400+136del
NM_001243182.1:c.3688+134_3688+136del	NP_001230111.1:n.3688+134_3688+136del
XM_005266423.2:c.3925+134_3925+136del	XP_005266480.1:n.3925+134_3925+136del
XM_005266424.3:c.3925+134_3925+136del	XP_005266481.1:n.3925+134_3925+136del
XM_005266427.2:c.3787+134_3787+136del	XP_005266484.1:n.3787+134_3787+136del
XM_005266428.1:c.3769+134_3769+136del	XP_005266485.1:n.3769+134_3769+136del
XM_005266430.3:c.4021+134_4021+136del	XP_005266487.1:n.4021+134_4021+136del
XM_005266431.2:c.3985+134_3985+136del	XP_005266488.1:n.3985+134_3985+136del
XM_005266432.2:c.3535+134_3535+136del	XP_005266489.1:n.3535+134_3535+136del
XM_006719837.2:c.3925+134_3925+136del	XP_006719900.1:n.3925+134_3925+136del
XM_006719838.1:c.1837+134_1837+136del	XP_006719901.1:n.1837+134_1837+136del
XM_006719839.1:c.1654+134_1654+136del	XP_006719902.1:n.1654+134_1654+136del
XM_011535117.1:c.3925+134_3925+136del	XP_011533419.1:n.3925+134_3925+136del
XM_011535118.1:c.3886+134_3886+136del	XP_011533420.1:n.3886+134_3886+136del
XM_011535119.1:c.3838+134_3838+136del	XP_011533421.1:n.3838+134_3838+136del
XM_011535120.1:c.3607+134_3607+136del	XP_011533422.1:n.3607+134_3607+136del
XM_011535121.1:c.3508+134_3508+136del	XP_011533423.1:n.3508+134_3508+136del
XM_011535122.1:c.2689+134_2689+136del	XP_011533424.1:n.2689+134_2689+136del
XR_941601.1:n.4240+134_4240+136del
XR_941602.1:n.4240+134_4240+136del
XR_941603.1:n.4240+134_4240+136del
XR_941604.1:n.4240+134_4240+136del
NM_001330578.1:c.3787+134_3787+136del	NP_001317507.1:n.3787+134_3787+136del
NM_001330579.1:c.3769+134_3769+136del	NP_001317508.1:n.3769+134_3769+136del
XM_005266424.4:c.3925+134_3925+136del	XP_005266481.1:n.3925+134_3925+136del
XM_005266430.4:c.4021+134_4021+136del	XP_005266487.1:n.4021+134_4021+136del
XM_005266431.4:c.3985+134_3985+136del	XP_005266488.1:n.3985+134_3985+136del
XM_006719837.3:c.3925+134_3925+136del	XP_006719900.1:n.3925+134_3925+136del
XM_011535117.3:c.3925+134_3925+136del	XP_011533419.1:n.3925+134_3925+136del
XM_017020627.1:c.3925+134_3925+136del	XP_016876116.1:n.3925+134_3925+136del
NM_000053.4:c.4021+134_4021+136del MANE Select	NP_000044.2:n.4021+134_4021+136del
NM_001005918.3:c.3400+134_3400+136del	NP_001005918.1:n.3400+134_3400+136del
NM_001330579.2:c.3769+134_3769+136del	NP_001317508.1:n.3769+134_3769+136del
NM_001243182.2:c.3688+134_3688+136del	NP_001230111.1:n.3688+134_3688+136del
NM_001330578.2:c.3787+134_3787+136del	NP_001317507.1:n.3787+134_3787+136del