Canonical Allele Identifier: CA2091559111

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51940976_51940977delinsCT , CM000675.2:g.51940976_51940977delinsCT	GRCh38
NC_000013.10:g.52515112_52515113delinsCT , CM000675.1:g.52515112_52515113delinsCT	GRCh37
NC_000013.9:g.51413113_51413114delinsCT	NCBI36
NG_008806.1:g.75518_75519delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1206+104_*1206+105delinsAG	ENSP00000489512.2:n.*1206+104_*1206+105delinsAG
ENST00000673864.2:c.*2300+104_*2300+105delinsAG	ENSP00000501045.2:n.*2300+104_*2300+105delinsAG
ENST00000674147.2:c.2935+104_2935+105delinsAG	ENSP00000500964.2:n.2935+104_2935+105delinsAG
ENST00000242839.10:c.3556+104_3556+105delinsAG MANE Select	ENSP00000242839.5:n.3556+104_3556+105delinsAG
ENST00000344297.9:c.2935+104_2935+105delinsAG	ENSP00000342559.5:n.2935+104_2935+105delinsAG
ENST00000400366.6:c.3223+104_3223+105delinsAG	ENSP00000383217.3:n.3223+104_3223+105delinsAG
ENST00000448424.7:c.3304+104_3304+105delinsAG	ENSP00000416738.3:n.3304+104_3304+105delinsAG
ENST00000673772.1:c.3322+104_3322+105delinsAG	ENSP00000501168.1:n.3322+104_3322+105delinsAG
ENST00000673867.1:n.3695+104_3695+105delinsAG
ENST00000674126.1:n.4023_4024delinsAG
ENST00000674147.1:c.2491+104_2491+105delinsAG	ENSP00000500964.1:n.2491+104_2491+105delinsAG
ENST00000242839.8:c.3556+104_3556+105delinsAG	ENSP00000242839.4:n.3556+104_3556+105delinsAG
ENST00000344297.8:c.2935+104_2935+105delinsAG	ENSP00000342559.5:n.2935+104_2935+105delinsAG
ENST00000400366.5:c.3223+104_3223+105delinsAG	ENSP00000383217.3:n.3223+104_3223+105delinsAG
ENST00000400370.8:c.2266+104_2266+105delinsAG	ENSP00000383221.3:n.2266+104_2266+105delinsAG
ENST00000418097.7:c.3361+104_3361+105delinsAG	ENSP00000393343.2:n.3361+104_3361+105delinsAG
ENST00000448424.6:c.3322+104_3322+105delinsAG	ENSP00000416738.2:n.3322+104_3322+105delinsAG
ENST00000634296.1:c.1334+104_1334+105delinsAG
ENST00000634308.1:c.*657+104_*657+105delinsAG	ENSP00000489234.1:n.*657+104_*657+105delinsAG
ENST00000634620.1:n.4300+104_4300+105delinsAG
ENST00000634810.1:n.2901+104_2901+105delinsAG
ENST00000634844.1:c.3412+104_3412+105delinsAG	ENSP00000489398.1:n.3412+104_3412+105delinsAG
NM_000053.3:c.3556+104_3556+105delinsAG	NP_000044.2:n.3556+104_3556+105delinsAG
NM_001005918.2:c.2935+104_2935+105delinsAG	NP_001005918.1:n.2935+104_2935+105delinsAG
NM_001243182.1:c.3223+104_3223+105delinsAG	NP_001230111.1:n.3223+104_3223+105delinsAG
XM_005266423.2:c.3460+104_3460+105delinsAG	XP_005266480.1:n.3460+104_3460+105delinsAG
XM_005266424.3:c.3460+104_3460+105delinsAG	XP_005266481.1:n.3460+104_3460+105delinsAG
XM_005266427.2:c.3322+104_3322+105delinsAG	XP_005266484.1:n.3322+104_3322+105delinsAG
XM_005266428.1:c.3304+104_3304+105delinsAG	XP_005266485.1:n.3304+104_3304+105delinsAG
XM_005266430.3:c.3556+104_3556+105delinsAG	XP_005266487.1:n.3556+104_3556+105delinsAG
XM_005266431.2:c.3520+104_3520+105delinsAG	XP_005266488.1:n.3520+104_3520+105delinsAG
XM_005266432.2:c.3070+104_3070+105delinsAG	XP_005266489.1:n.3070+104_3070+105delinsAG
XM_006719837.2:c.3460+104_3460+105delinsAG	XP_006719900.1:n.3460+104_3460+105delinsAG
XM_006719838.1:c.1372+104_1372+105delinsAG	XP_006719901.1:n.1372+104_1372+105delinsAG
XM_006719839.1:c.1189+104_1189+105delinsAG	XP_006719902.1:n.1189+104_1189+105delinsAG
XM_011535117.1:c.3460+104_3460+105delinsAG	XP_011533419.1:n.3460+104_3460+105delinsAG
XM_011535118.1:c.3421+104_3421+105delinsAG	XP_011533420.1:n.3421+104_3421+105delinsAG
XM_011535119.1:c.3373+104_3373+105delinsAG	XP_011533421.1:n.3373+104_3373+105delinsAG
XM_011535120.1:c.3142+104_3142+105delinsAG	XP_011533422.1:n.3142+104_3142+105delinsAG
XM_011535121.1:c.3043+104_3043+105delinsAG	XP_011533423.1:n.3043+104_3043+105delinsAG
XM_011535122.1:c.2224+104_2224+105delinsAG	XP_011533424.1:n.2224+104_2224+105delinsAG
XR_941601.1:n.3775+104_3775+105delinsAG
XR_941602.1:n.3775+104_3775+105delinsAG
XR_941603.1:n.3775+104_3775+105delinsAG
XR_941604.1:n.3775+104_3775+105delinsAG
NM_001330578.1:c.3322+104_3322+105delinsAG	NP_001317507.1:n.3322+104_3322+105delinsAG
NM_001330579.1:c.3304+104_3304+105delinsAG	NP_001317508.1:n.3304+104_3304+105delinsAG
XM_005266424.4:c.3460+104_3460+105delinsAG	XP_005266481.1:n.3460+104_3460+105delinsAG
XM_005266430.4:c.3556+104_3556+105delinsAG	XP_005266487.1:n.3556+104_3556+105delinsAG
XM_005266431.4:c.3520+104_3520+105delinsAG	XP_005266488.1:n.3520+104_3520+105delinsAG
XM_006719837.3:c.3460+104_3460+105delinsAG	XP_006719900.1:n.3460+104_3460+105delinsAG
XM_011535117.3:c.3460+104_3460+105delinsAG	XP_011533419.1:n.3460+104_3460+105delinsAG
XM_017020627.1:c.3460+104_3460+105delinsAG	XP_016876116.1:n.3460+104_3460+105delinsAG
NM_000053.4:c.3556+104_3556+105delinsAG MANE Select	NP_000044.2:n.3556+104_3556+105delinsAG
NM_001005918.3:c.2935+104_2935+105delinsAG	NP_001005918.1:n.2935+104_2935+105delinsAG
NM_001330579.2:c.3304+104_3304+105delinsAG	NP_001317508.1:n.3304+104_3304+105delinsAG
NM_001243182.2:c.3223+104_3223+105delinsAG	NP_001230111.1:n.3223+104_3223+105delinsAG
NM_001330578.2:c.3322+104_3322+105delinsAG	NP_001317507.1:n.3322+104_3322+105delinsAG