Canonical Allele Identifier: CA698882843

Gene: ATP7B

Linked Data

• dbSNP Id: rs1298237385
• gnomAD v3: 13-51941003-AAGG-A
• gnomAD v4: 13-51941003-AAGG-A
• MyVariant Identifiers: chr13:g.52515140_52515142del (hg19) ; chr13:g.51941004_51941006del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941008_51941010del , CM000675.2:g.51941008_51941010del	GRCh38
NC_000013.10:g.52515144_52515146del , CM000675.1:g.52515144_52515146del	GRCh37
NC_000013.9:g.51413145_51413147del	NCBI36
NG_008806.1:g.75489_75491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1206+75_*1206+77del	ENSP00000489512.2:n.*1206+75_*1206+77del
ENST00000673864.2:c.*2300+75_*2300+77del	ENSP00000501045.2:n.*2300+75_*2300+77del
ENST00000674147.2:c.2935+75_2935+77del	ENSP00000500964.2:n.2935+75_2935+77del
ENST00000242839.10:c.3556+75_3556+77del MANE Select	ENSP00000242839.5:n.3556+75_3556+77del
ENST00000344297.9:c.2935+75_2935+77del	ENSP00000342559.5:n.2935+75_2935+77del
ENST00000400366.6:c.3223+75_3223+77del	ENSP00000383217.3:n.3223+75_3223+77del
ENST00000448424.7:c.3304+75_3304+77del	ENSP00000416738.3:n.3304+75_3304+77del
ENST00000673772.1:c.3322+75_3322+77del	ENSP00000501168.1:n.3322+75_3322+77del
ENST00000673867.1:n.3695+75_3695+77del
ENST00000674126.1:n.3994_3996del
ENST00000674147.1:c.2491+75_2491+77del	ENSP00000500964.1:n.2491+75_2491+77del
ENST00000242839.8:c.3556+75_3556+77del	ENSP00000242839.4:n.3556+75_3556+77del
ENST00000344297.8:c.2935+75_2935+77del	ENSP00000342559.5:n.2935+75_2935+77del
ENST00000400366.5:c.3223+75_3223+77del	ENSP00000383217.3:n.3223+75_3223+77del
ENST00000400370.8:c.2266+75_2266+77del	ENSP00000383221.3:n.2266+75_2266+77del
ENST00000418097.7:c.3361+75_3361+77del	ENSP00000393343.2:n.3361+75_3361+77del
ENST00000448424.6:c.3322+75_3322+77del	ENSP00000416738.2:n.3322+75_3322+77del
ENST00000634296.1:c.1334+75_1334+77del
ENST00000634308.1:c.*657+75_*657+77del	ENSP00000489234.1:n.*657+75_*657+77del
ENST00000634620.1:n.4300+75_4300+77del
ENST00000634810.1:n.2901+75_2901+77del
ENST00000634844.1:c.3412+75_3412+77del	ENSP00000489398.1:n.3412+75_3412+77del
NM_000053.3:c.3556+75_3556+77del	NP_000044.2:n.3556+75_3556+77del
NM_001005918.2:c.2935+75_2935+77del	NP_001005918.1:n.2935+75_2935+77del
NM_001243182.1:c.3223+75_3223+77del	NP_001230111.1:n.3223+75_3223+77del
XM_005266423.2:c.3460+75_3460+77del	XP_005266480.1:n.3460+75_3460+77del
XM_005266424.3:c.3460+75_3460+77del	XP_005266481.1:n.3460+75_3460+77del
XM_005266427.2:c.3322+75_3322+77del	XP_005266484.1:n.3322+75_3322+77del
XM_005266428.1:c.3304+75_3304+77del	XP_005266485.1:n.3304+75_3304+77del
XM_005266430.3:c.3556+75_3556+77del	XP_005266487.1:n.3556+75_3556+77del
XM_005266431.2:c.3520+75_3520+77del	XP_005266488.1:n.3520+75_3520+77del
XM_005266432.2:c.3070+75_3070+77del	XP_005266489.1:n.3070+75_3070+77del
XM_006719837.2:c.3460+75_3460+77del	XP_006719900.1:n.3460+75_3460+77del
XM_006719838.1:c.1372+75_1372+77del	XP_006719901.1:n.1372+75_1372+77del
XM_006719839.1:c.1189+75_1189+77del	XP_006719902.1:n.1189+75_1189+77del
XM_011535117.1:c.3460+75_3460+77del	XP_011533419.1:n.3460+75_3460+77del
XM_011535118.1:c.3421+75_3421+77del	XP_011533420.1:n.3421+75_3421+77del
XM_011535119.1:c.3373+75_3373+77del	XP_011533421.1:n.3373+75_3373+77del
XM_011535120.1:c.3142+75_3142+77del	XP_011533422.1:n.3142+75_3142+77del
XM_011535121.1:c.3043+75_3043+77del	XP_011533423.1:n.3043+75_3043+77del
XM_011535122.1:c.2224+75_2224+77del	XP_011533424.1:n.2224+75_2224+77del
XR_941601.1:n.3775+75_3775+77del
XR_941602.1:n.3775+75_3775+77del
XR_941603.1:n.3775+75_3775+77del
XR_941604.1:n.3775+75_3775+77del
NM_001330578.1:c.3322+75_3322+77del	NP_001317507.1:n.3322+75_3322+77del
NM_001330579.1:c.3304+75_3304+77del	NP_001317508.1:n.3304+75_3304+77del
XM_005266424.4:c.3460+75_3460+77del	XP_005266481.1:n.3460+75_3460+77del
XM_005266430.4:c.3556+75_3556+77del	XP_005266487.1:n.3556+75_3556+77del
XM_005266431.4:c.3520+75_3520+77del	XP_005266488.1:n.3520+75_3520+77del
XM_006719837.3:c.3460+75_3460+77del	XP_006719900.1:n.3460+75_3460+77del
XM_011535117.3:c.3460+75_3460+77del	XP_011533419.1:n.3460+75_3460+77del
XM_017020627.1:c.3460+75_3460+77del	XP_016876116.1:n.3460+75_3460+77del
NM_000053.4:c.3556+75_3556+77del MANE Select	NP_000044.2:n.3556+75_3556+77del
NM_001005918.3:c.2935+75_2935+77del	NP_001005918.1:n.2935+75_2935+77del
NM_001330579.2:c.3304+75_3304+77del	NP_001317508.1:n.3304+75_3304+77del
NM_001243182.2:c.3223+75_3223+77del	NP_001230111.1:n.3223+75_3223+77del
NM_001330578.2:c.3322+75_3322+77del	NP_001317507.1:n.3322+75_3322+77del