Canonical Allele Identifier: CA956029678

Gene: ATP7B

Linked Data

• dbSNP Id: rs1957294875
• gnomAD v3: 13-51940977-TTTTG-T
• gnomAD v4: 13-51940977-TTTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51940983_51940986del , CM000675.2:g.51940983_51940986del	GRCh38
NC_000013.10:g.52515119_52515122del , CM000675.1:g.52515119_52515122del	GRCh37
NC_000013.9:g.51413120_51413123del	NCBI36
NG_008806.1:g.75514_75517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1206+100_*1206+103del	ENSP00000489512.2:n.*1206+100_*1206+103del
ENST00000673864.2:c.*2300+100_*2300+103del	ENSP00000501045.2:n.*2300+100_*2300+103del
ENST00000674147.2:c.2935+100_2935+103del	ENSP00000500964.2:n.2935+100_2935+103del
ENST00000242839.10:c.3556+100_3556+103del MANE Select	ENSP00000242839.5:n.3556+100_3556+103del
ENST00000344297.9:c.2935+100_2935+103del	ENSP00000342559.5:n.2935+100_2935+103del
ENST00000400366.6:c.3223+100_3223+103del	ENSP00000383217.3:n.3223+100_3223+103del
ENST00000448424.7:c.3304+100_3304+103del	ENSP00000416738.3:n.3304+100_3304+103del
ENST00000673772.1:c.3322+100_3322+103del	ENSP00000501168.1:n.3322+100_3322+103del
ENST00000673867.1:n.3695+100_3695+103del
ENST00000674126.1:n.4019_4022del
ENST00000674147.1:c.2491+100_2491+103del	ENSP00000500964.1:n.2491+100_2491+103del
ENST00000242839.8:c.3556+100_3556+103del	ENSP00000242839.4:n.3556+100_3556+103del
ENST00000344297.8:c.2935+100_2935+103del	ENSP00000342559.5:n.2935+100_2935+103del
ENST00000400366.5:c.3223+100_3223+103del	ENSP00000383217.3:n.3223+100_3223+103del
ENST00000400370.8:c.2266+100_2266+103del	ENSP00000383221.3:n.2266+100_2266+103del
ENST00000418097.7:c.3361+100_3361+103del	ENSP00000393343.2:n.3361+100_3361+103del
ENST00000448424.6:c.3322+100_3322+103del	ENSP00000416738.2:n.3322+100_3322+103del
ENST00000634296.1:c.1334+100_1334+103del
ENST00000634308.1:c.*657+100_*657+103del	ENSP00000489234.1:n.*657+100_*657+103del
ENST00000634620.1:n.4300+100_4300+103del
ENST00000634810.1:n.2901+100_2901+103del
ENST00000634844.1:c.3412+100_3412+103del	ENSP00000489398.1:n.3412+100_3412+103del
NM_000053.3:c.3556+100_3556+103del	NP_000044.2:n.3556+100_3556+103del
NM_001005918.2:c.2935+100_2935+103del	NP_001005918.1:n.2935+100_2935+103del
NM_001243182.1:c.3223+100_3223+103del	NP_001230111.1:n.3223+100_3223+103del
XM_005266423.2:c.3460+100_3460+103del	XP_005266480.1:n.3460+100_3460+103del
XM_005266424.3:c.3460+100_3460+103del	XP_005266481.1:n.3460+100_3460+103del
XM_005266427.2:c.3322+100_3322+103del	XP_005266484.1:n.3322+100_3322+103del
XM_005266428.1:c.3304+100_3304+103del	XP_005266485.1:n.3304+100_3304+103del
XM_005266430.3:c.3556+100_3556+103del	XP_005266487.1:n.3556+100_3556+103del
XM_005266431.2:c.3520+100_3520+103del	XP_005266488.1:n.3520+100_3520+103del
XM_005266432.2:c.3070+100_3070+103del	XP_005266489.1:n.3070+100_3070+103del
XM_006719837.2:c.3460+100_3460+103del	XP_006719900.1:n.3460+100_3460+103del
XM_006719838.1:c.1372+100_1372+103del	XP_006719901.1:n.1372+100_1372+103del
XM_006719839.1:c.1189+100_1189+103del	XP_006719902.1:n.1189+100_1189+103del
XM_011535117.1:c.3460+100_3460+103del	XP_011533419.1:n.3460+100_3460+103del
XM_011535118.1:c.3421+100_3421+103del	XP_011533420.1:n.3421+100_3421+103del
XM_011535119.1:c.3373+100_3373+103del	XP_011533421.1:n.3373+100_3373+103del
XM_011535120.1:c.3142+100_3142+103del	XP_011533422.1:n.3142+100_3142+103del
XM_011535121.1:c.3043+100_3043+103del	XP_011533423.1:n.3043+100_3043+103del
XM_011535122.1:c.2224+100_2224+103del	XP_011533424.1:n.2224+100_2224+103del
XR_941601.1:n.3775+100_3775+103del
XR_941602.1:n.3775+100_3775+103del
XR_941603.1:n.3775+100_3775+103del
XR_941604.1:n.3775+100_3775+103del
NM_001330578.1:c.3322+100_3322+103del	NP_001317507.1:n.3322+100_3322+103del
NM_001330579.1:c.3304+100_3304+103del	NP_001317508.1:n.3304+100_3304+103del
XM_005266424.4:c.3460+100_3460+103del	XP_005266481.1:n.3460+100_3460+103del
XM_005266430.4:c.3556+100_3556+103del	XP_005266487.1:n.3556+100_3556+103del
XM_005266431.4:c.3520+100_3520+103del	XP_005266488.1:n.3520+100_3520+103del
XM_006719837.3:c.3460+100_3460+103del	XP_006719900.1:n.3460+100_3460+103del
XM_011535117.3:c.3460+100_3460+103del	XP_011533419.1:n.3460+100_3460+103del
XM_017020627.1:c.3460+100_3460+103del	XP_016876116.1:n.3460+100_3460+103del
NM_000053.4:c.3556+100_3556+103del MANE Select	NP_000044.2:n.3556+100_3556+103del
NM_001005918.3:c.2935+100_2935+103del	NP_001005918.1:n.2935+100_2935+103del
NM_001330579.2:c.3304+100_3304+103del	NP_001317508.1:n.3304+100_3304+103del
NM_001243182.2:c.3223+100_3223+103del	NP_001230111.1:n.3223+100_3223+103del
NM_001330578.2:c.3322+100_3322+103del	NP_001317507.1:n.3322+100_3322+103del