Canonical Allele Identifier: CA2575420554

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51941054-CGGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941061_51941064del , CM000675.2:g.51941061_51941064del	GRCh38
NC_000013.10:g.52515197_52515200del , CM000675.1:g.52515197_52515200del	GRCh37
NC_000013.9:g.51413198_51413201del	NCBI36
NG_008806.1:g.75437_75440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1206+23_*1206+26del	ENSP00000489512.2:n.*1206+23_*1206+26del
ENST00000673864.2:c.*2300+23_*2300+26del	ENSP00000501045.2:n.*2300+23_*2300+26del
ENST00000674147.2:c.2935+23_2935+26del	ENSP00000500964.2:n.2935+23_2935+26del
ENST00000242839.10:c.3556+23_3556+26del MANE Select	ENSP00000242839.5:n.3556+23_3556+26del
ENST00000344297.9:c.2935+23_2935+26del	ENSP00000342559.5:n.2935+23_2935+26del
ENST00000400366.6:c.3223+23_3223+26del	ENSP00000383217.3:n.3223+23_3223+26del
ENST00000448424.7:c.3304+23_3304+26del	ENSP00000416738.3:n.3304+23_3304+26del
ENST00000673772.1:c.3322+23_3322+26del	ENSP00000501168.1:n.3322+23_3322+26del
ENST00000673867.1:n.3695+23_3695+26del
ENST00000674126.1:n.3942_3945del
ENST00000674147.1:c.2491+23_2491+26del	ENSP00000500964.1:n.2491+23_2491+26del
ENST00000242839.8:c.3556+23_3556+26del	ENSP00000242839.4:n.3556+23_3556+26del
ENST00000344297.8:c.2935+23_2935+26del	ENSP00000342559.5:n.2935+23_2935+26del
ENST00000400366.5:c.3223+23_3223+26del	ENSP00000383217.3:n.3223+23_3223+26del
ENST00000400370.8:c.2266+23_2266+26del	ENSP00000383221.3:n.2266+23_2266+26del
ENST00000418097.7:c.3361+23_3361+26del	ENSP00000393343.2:n.3361+23_3361+26del
ENST00000448424.6:c.3322+23_3322+26del	ENSP00000416738.2:n.3322+23_3322+26del
ENST00000634296.1:c.1334+23_1334+26del
ENST00000634308.1:c.*657+23_*657+26del	ENSP00000489234.1:n.*657+23_*657+26del
ENST00000634620.1:n.4300+23_4300+26del
ENST00000634810.1:n.2901+23_2901+26del
ENST00000634844.1:c.3412+23_3412+26del	ENSP00000489398.1:n.3412+23_3412+26del
NM_000053.3:c.3556+23_3556+26del	NP_000044.2:n.3556+23_3556+26del
NM_001005918.2:c.2935+23_2935+26del	NP_001005918.1:n.2935+23_2935+26del
NM_001243182.1:c.3223+23_3223+26del	NP_001230111.1:n.3223+23_3223+26del
XM_005266423.2:c.3460+23_3460+26del	XP_005266480.1:n.3460+23_3460+26del
XM_005266424.3:c.3460+23_3460+26del	XP_005266481.1:n.3460+23_3460+26del
XM_005266427.2:c.3322+23_3322+26del	XP_005266484.1:n.3322+23_3322+26del
XM_005266428.1:c.3304+23_3304+26del	XP_005266485.1:n.3304+23_3304+26del
XM_005266430.3:c.3556+23_3556+26del	XP_005266487.1:n.3556+23_3556+26del
XM_005266431.2:c.3520+23_3520+26del	XP_005266488.1:n.3520+23_3520+26del
XM_005266432.2:c.3070+23_3070+26del	XP_005266489.1:n.3070+23_3070+26del
XM_006719837.2:c.3460+23_3460+26del	XP_006719900.1:n.3460+23_3460+26del
XM_006719838.1:c.1372+23_1372+26del	XP_006719901.1:n.1372+23_1372+26del
XM_006719839.1:c.1189+23_1189+26del	XP_006719902.1:n.1189+23_1189+26del
XM_011535117.1:c.3460+23_3460+26del	XP_011533419.1:n.3460+23_3460+26del
XM_011535118.1:c.3421+23_3421+26del	XP_011533420.1:n.3421+23_3421+26del
XM_011535119.1:c.3373+23_3373+26del	XP_011533421.1:n.3373+23_3373+26del
XM_011535120.1:c.3142+23_3142+26del	XP_011533422.1:n.3142+23_3142+26del
XM_011535121.1:c.3043+23_3043+26del	XP_011533423.1:n.3043+23_3043+26del
XM_011535122.1:c.2224+23_2224+26del	XP_011533424.1:n.2224+23_2224+26del
XR_941601.1:n.3775+23_3775+26del
XR_941602.1:n.3775+23_3775+26del
XR_941603.1:n.3775+23_3775+26del
XR_941604.1:n.3775+23_3775+26del
NM_001330578.1:c.3322+23_3322+26del	NP_001317507.1:n.3322+23_3322+26del
NM_001330579.1:c.3304+23_3304+26del	NP_001317508.1:n.3304+23_3304+26del
XM_005266424.4:c.3460+23_3460+26del	XP_005266481.1:n.3460+23_3460+26del
XM_005266430.4:c.3556+23_3556+26del	XP_005266487.1:n.3556+23_3556+26del
XM_005266431.4:c.3520+23_3520+26del	XP_005266488.1:n.3520+23_3520+26del
XM_006719837.3:c.3460+23_3460+26del	XP_006719900.1:n.3460+23_3460+26del
XM_011535117.3:c.3460+23_3460+26del	XP_011533419.1:n.3460+23_3460+26del
XM_017020627.1:c.3460+23_3460+26del	XP_016876116.1:n.3460+23_3460+26del
NM_000053.4:c.3556+23_3556+26del MANE Select	NP_000044.2:n.3556+23_3556+26del
NM_001005918.3:c.2935+23_2935+26del	NP_001005918.1:n.2935+23_2935+26del
NM_001330579.2:c.3304+23_3304+26del	NP_001317508.1:n.3304+23_3304+26del
NM_001243182.2:c.3223+23_3223+26del	NP_001230111.1:n.3223+23_3223+26del
NM_001330578.2:c.3322+23_3322+26del	NP_001317507.1:n.3322+23_3322+26del