Canonical Allele Identifier: CA2695218713

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941218del , CM000675.2:g.51941218del	GRCh38
NC_000013.10:g.52515354del , CM000675.1:g.52515354del	GRCh37
NC_000013.9:g.51413355del	NCBI36
NG_008806.1:g.75277del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1069del	ENSP00000489512.2:n.*1069del
ENST00000673864.2:c.*2163del	ENSP00000501045.2:n.*2163del
ENST00000674147.2:c.2798del	ENSP00000500964.2:p.Val933AlafsTer8
ENST00000242839.10:c.3419del MANE Select	ENSP00000242839.5:p.Val1140AlafsTer8
ENST00000344297.9:c.2798del	ENSP00000342559.5:p.Val933AlafsTer8
ENST00000400366.6:c.3086del	ENSP00000383217.3:p.Val1029AlafsTer8
ENST00000448424.7:c.3167del	ENSP00000416738.3:p.Val1056AlafsTer8
ENST00000673772.1:c.3185del	ENSP00000501168.1:p.Val1062AlafsTer8
ENST00000673867.1:n.3558del
ENST00000674126.1:n.3782del
ENST00000674147.1:c.2354del	ENSP00000500964.1:p.Val785AlafsTer8
ENST00000242839.8:c.3419del	ENSP00000242839.4:p.Val1140AlafsTer8
ENST00000344297.8:c.2798del	ENSP00000342559.5:p.Val933AlafsTer8
ENST00000400366.5:c.3086del	ENSP00000383217.3:p.Val1029AlafsTer8
ENST00000400370.8:c.2129del	ENSP00000383221.3:p.Val710AlafsTer8
ENST00000418097.7:c.3224del	ENSP00000393343.2:p.Val1075AlafsTer8
ENST00000448424.6:c.3185del	ENSP00000416738.2:p.Val1062AlafsTer8
ENST00000634296.1:c.1197del
ENST00000634308.1:c.*520del	ENSP00000489234.1:n.*520del
ENST00000634620.1:n.4163del
ENST00000634810.1:n.2764del
ENST00000634844.1:c.3275del	ENSP00000489398.1:p.Val1092AlafsTer8
NM_000053.3:c.3419del	NP_000044.2:p.Val1140AlafsTer8
NM_001005918.2:c.2798del	NP_001005918.1:p.Val933AlafsTer8
NM_001243182.1:c.3086del	NP_001230111.1:p.Val1029AlafsTer8
XM_005266423.2:c.3323del	XP_005266480.1:p.Val1108AlafsTer8
XM_005266424.3:c.3323del	XP_005266481.1:p.Val1108AlafsTer8
XM_005266427.2:c.3185del	XP_005266484.1:p.Val1062AlafsTer8
XM_005266428.1:c.3167del	XP_005266485.1:p.Val1056AlafsTer8
XM_005266430.3:c.3419del	XP_005266487.1:p.Val1140AlafsTer8
XM_005266431.2:c.3383del	XP_005266488.1:p.Val1128AlafsTer8
XM_005266432.2:c.2933del	XP_005266489.1:p.Val978AlafsTer8
XM_006719837.2:c.3323del	XP_006719900.1:p.Val1108AlafsTer8
XM_006719838.1:c.1235del	XP_006719901.1:p.Val412AlafsTer8
XM_006719839.1:c.1052del	XP_006719902.1:p.Val351AlafsTer8
XM_011535117.1:c.3323del	XP_011533419.1:p.Val1108AlafsTer8
XM_011535118.1:c.3284del	XP_011533420.1:p.Val1095AlafsTer8
XM_011535119.1:c.3236del	XP_011533421.1:p.Val1079AlafsTer8
XM_011535120.1:c.3005del	XP_011533422.1:p.Val1002AlafsTer8
XM_011535121.1:c.2906del	XP_011533423.1:p.Val969AlafsTer8
XM_011535122.1:c.2087del	XP_011533424.1:p.Val696AlafsTer8
XR_941601.1:n.3638del
XR_941602.1:n.3638del
XR_941603.1:n.3638del
XR_941604.1:n.3638del
NM_001330578.1:c.3185del	NP_001317507.1:p.Val1062AlafsTer8
NM_001330579.1:c.3167del	NP_001317508.1:p.Val1056AlafsTer8
XM_005266424.4:c.3323del	XP_005266481.1:p.Val1108AlafsTer8
XM_005266430.4:c.3419del	XP_005266487.1:p.Val1140AlafsTer8
XM_005266431.4:c.3383del	XP_005266488.1:p.Val1128AlafsTer8
XM_006719837.3:c.3323del	XP_006719900.1:p.Val1108AlafsTer8
XM_011535117.3:c.3323del	XP_011533419.1:p.Val1108AlafsTer8
XM_017020627.1:c.3323del	XP_016876116.1:p.Val1108AlafsTer8
NM_000053.4:c.3419del MANE Select	NP_000044.2:p.Val1140AlafsTer8
NM_001005918.3:c.2798del	NP_001005918.1:p.Val933AlafsTer8
NM_001330579.2:c.3167del	NP_001317508.1:p.Val1056AlafsTer8
NM_001243182.2:c.3086del	NP_001230111.1:p.Val1029AlafsTer8
NM_001330578.2:c.3185del	NP_001317507.1:p.Val1062AlafsTer8