Canonical Allele Identifier: CA2695199760

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2679822
• ClinVar RCV Id: RCV003464960

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941086_51941094delinsGCAGA , CM000675.2:g.51941086_51941094delinsGCAGA	GRCh38
NC_000013.10:g.52515222_52515230delinsGCAGA , CM000675.1:g.52515222_52515230delinsGCAGA	GRCh37
NC_000013.9:g.51413223_51413231delinsGCAGA	NCBI36
NG_008806.1:g.75401_75409delinsTCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1193_*1201delinsTCTGC	ENSP00000489512.2:n.*1193_*1201delinsTCTGC
ENST00000673864.2:c.*2287_*2295delinsTCTGC	ENSP00000501045.2:n.*2287_*2295delinsTCTGC
ENST00000674147.2:c.2922_2930delinsTCTGC	ENSP00000500964.2:p.Val975LeufsTer9
ENST00000242839.10:c.3543_3551delinsTCTGC MANE Select	ENSP00000242839.5:p.Val1182LeufsTer9
ENST00000344297.9:c.2922_2930delinsTCTGC	ENSP00000342559.5:p.Val975LeufsTer9
ENST00000400366.6:c.3210_3218delinsTCTGC	ENSP00000383217.3:p.Val1071LeufsTer9
ENST00000448424.7:c.3291_3299delinsTCTGC	ENSP00000416738.3:p.Val1098LeufsTer9
ENST00000673772.1:c.3309_3317delinsTCTGC	ENSP00000501168.1:p.Val1104LeufsTer9
ENST00000673867.1:n.3682_3690delinsTCTGC
ENST00000674126.1:n.3906_3914delinsTCTGC
ENST00000674147.1:c.2478_2486delinsTCTGC	ENSP00000500964.1:p.Val827LeufsTer9
ENST00000242839.8:c.3543_3551delinsTCTGC	ENSP00000242839.4:p.Val1182LeufsTer9
ENST00000344297.8:c.2922_2930delinsTCTGC	ENSP00000342559.5:p.Val975LeufsTer9
ENST00000400366.5:c.3210_3218delinsTCTGC	ENSP00000383217.3:p.Val1071LeufsTer9
ENST00000400370.8:c.2253_2261delinsTCTGC	ENSP00000383221.3:p.Val752LeufsTer9
ENST00000418097.7:c.3348_3356delinsTCTGC	ENSP00000393343.2:p.Val1117LeufsTer9
ENST00000448424.6:c.3309_3317delinsTCTGC	ENSP00000416738.2:p.Val1104LeufsTer9
ENST00000634296.1:c.1321_1329delinsTCTGC
ENST00000634308.1:c.*644_*652delinsTCTGC	ENSP00000489234.1:n.*644_*652delinsTCTGC
ENST00000634620.1:n.4287_4295delinsTCTGC
ENST00000634810.1:n.2888_2896delinsTCTGC
ENST00000634844.1:c.3399_3407delinsTCTGC	ENSP00000489398.1:p.Val1134LeufsTer9
NM_000053.3:c.3543_3551delinsTCTGC	NP_000044.2:p.Val1182LeufsTer9
NM_001005918.2:c.2922_2930delinsTCTGC	NP_001005918.1:p.Val975LeufsTer9
NM_001243182.1:c.3210_3218delinsTCTGC	NP_001230111.1:p.Val1071LeufsTer9
XM_005266423.2:c.3447_3455delinsTCTGC	XP_005266480.1:p.Val1150LeufsTer9
XM_005266424.3:c.3447_3455delinsTCTGC	XP_005266481.1:p.Val1150LeufsTer9
XM_005266427.2:c.3309_3317delinsTCTGC	XP_005266484.1:p.Val1104LeufsTer9
XM_005266428.1:c.3291_3299delinsTCTGC	XP_005266485.1:p.Val1098LeufsTer9
XM_005266430.3:c.3543_3551delinsTCTGC	XP_005266487.1:p.Val1182LeufsTer9
XM_005266431.2:c.3507_3515delinsTCTGC	XP_005266488.1:p.Val1170LeufsTer9
XM_005266432.2:c.3057_3065delinsTCTGC	XP_005266489.1:p.Val1020LeufsTer9
XM_006719837.2:c.3447_3455delinsTCTGC	XP_006719900.1:p.Val1150LeufsTer9
XM_006719838.1:c.1359_1367delinsTCTGC	XP_006719901.1:p.Val454LeufsTer9
XM_006719839.1:c.1176_1184delinsTCTGC	XP_006719902.1:p.Val393LeufsTer9
XM_011535117.1:c.3447_3455delinsTCTGC	XP_011533419.1:p.Val1150LeufsTer9
XM_011535118.1:c.3408_3416delinsTCTGC	XP_011533420.1:p.Val1137LeufsTer9
XM_011535119.1:c.3360_3368delinsTCTGC	XP_011533421.1:p.Val1121LeufsTer9
XM_011535120.1:c.3129_3137delinsTCTGC	XP_011533422.1:p.Val1044LeufsTer9
XM_011535121.1:c.3030_3038delinsTCTGC	XP_011533423.1:p.Val1011LeufsTer9
XM_011535122.1:c.2211_2219delinsTCTGC	XP_011533424.1:p.Val738LeufsTer9
XR_941601.1:n.3762_3770delinsTCTGC
XR_941602.1:n.3762_3770delinsTCTGC
XR_941603.1:n.3762_3770delinsTCTGC
XR_941604.1:n.3762_3770delinsTCTGC
NM_001330578.1:c.3309_3317delinsTCTGC	NP_001317507.1:p.Val1104LeufsTer9
NM_001330579.1:c.3291_3299delinsTCTGC	NP_001317508.1:p.Val1098LeufsTer9
XM_005266424.4:c.3447_3455delinsTCTGC	XP_005266481.1:p.Val1150LeufsTer9
XM_005266430.4:c.3543_3551delinsTCTGC	XP_005266487.1:p.Val1182LeufsTer9
XM_005266431.4:c.3507_3515delinsTCTGC	XP_005266488.1:p.Val1170LeufsTer9
XM_006719837.3:c.3447_3455delinsTCTGC	XP_006719900.1:p.Val1150LeufsTer9
XM_011535117.3:c.3447_3455delinsTCTGC	XP_011533419.1:p.Val1150LeufsTer9
XM_017020627.1:c.3447_3455delinsTCTGC	XP_016876116.1:p.Val1150LeufsTer9
NM_000053.4:c.3543_3551delinsTCTGC MANE Select	NP_000044.2:p.Val1182LeufsTer9
NM_001005918.3:c.2922_2930delinsTCTGC	NP_001005918.1:p.Val975LeufsTer9
NM_001330579.2:c.3291_3299delinsTCTGC	NP_001317508.1:p.Val1098LeufsTer9
NM_001243182.2:c.3210_3218delinsTCTGC	NP_001230111.1:p.Val1071LeufsTer9
NM_001330578.2:c.3309_3317delinsTCTGC	NP_001317507.1:p.Val1104LeufsTer9