Canonical Allele Identifier: CA2695199757

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2679798
• ClinVar RCV Id: RCV003464936

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942542_51942543del , CM000675.2:g.51942542_51942543del	GRCh38
NC_000013.10:g.52516678_52516679del , CM000675.1:g.52516678_52516679del	GRCh37
NC_000013.9:g.51414679_51414680del	NCBI36
NG_008806.1:g.73955_73956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*908_*909del	ENSP00000489512.2:n.*908_*909del
ENST00000673864.2:c.*2002_*2003del	ENSP00000501045.2:n.*2002_*2003del
ENST00000674147.2:c.2637_2638del	ENSP00000500964.2:p.Glu879AspfsTer?
ENST00000242839.10:c.3258_3259del MANE Select	ENSP00000242839.5:p.Glu1086AspfsTer?
ENST00000344297.9:c.2637_2638del	ENSP00000342559.5:p.Glu879AspfsTer?
ENST00000400366.6:c.2925_2926del	ENSP00000383217.3:p.Glu975AspfsTer?
ENST00000448424.7:c.3006_3007del	ENSP00000416738.3:p.Glu1002AspfsTer?
ENST00000673772.1:c.3024_3025del	ENSP00000501168.1:p.Glu1008AspfsTer?
ENST00000673867.1:n.3397_3398del
ENST00000674126.1:n.3621_3622del
ENST00000674147.1:c.2193_2194del	ENSP00000500964.1:p.Glu731AspfsTer?
ENST00000242839.8:c.3258_3259del	ENSP00000242839.4:p.Glu1086AspfsTer?
ENST00000344297.8:c.2637_2638del	ENSP00000342559.5:p.Glu879AspfsTer?
ENST00000400366.5:c.2925_2926del	ENSP00000383217.3:p.Glu975AspfsTer?
ENST00000400370.8:c.1968_1969del	ENSP00000383221.3:p.Glu656AspfsTer?
ENST00000418097.7:c.3063_3064del	ENSP00000393343.2:p.Glu1021AspfsTer?
ENST00000448424.6:c.3024_3025del	ENSP00000416738.2:p.Glu1008AspfsTer?
ENST00000634296.1:c.1036_1037del
ENST00000634308.1:c.*359_*360del	ENSP00000489234.1:n.*359_*360del
ENST00000634620.1:n.4002_4003del
ENST00000634810.1:n.2603_2604del
ENST00000634844.1:c.3114_3115del	ENSP00000489398.1:p.Glu1038AspfsTer?
NM_000053.3:c.3258_3259del	NP_000044.2:p.Glu1086AspfsTer?
NM_001005918.2:c.2637_2638del	NP_001005918.1:p.Glu879AspfsTer?
NM_001243182.1:c.2925_2926del	NP_001230111.1:p.Glu975AspfsTer?
XM_005266423.2:c.3162_3163del	XP_005266480.1:p.Glu1054AspfsTer?
XM_005266424.3:c.3162_3163del	XP_005266481.1:p.Glu1054AspfsTer?
XM_005266427.2:c.3024_3025del	XP_005266484.1:p.Glu1008AspfsTer?
XM_005266428.1:c.3006_3007del	XP_005266485.1:p.Glu1002AspfsTer?
XM_005266430.3:c.3258_3259del	XP_005266487.1:p.Glu1086AspfsTer?
XM_005266431.2:c.3222_3223del	XP_005266488.1:p.Glu1074AspfsTer?
XM_005266432.2:c.2772_2773del	XP_005266489.1:p.Glu924AspfsTer?
XM_006719837.2:c.3162_3163del	XP_006719900.1:p.Glu1054AspfsTer?
XM_006719838.1:c.1074_1075del	XP_006719901.1:p.Glu358AspfsTer?
XM_006719839.1:c.891_892del	XP_006719902.1:p.Glu297AspfsTer?
XM_011535117.1:c.3162_3163del	XP_011533419.1:p.Glu1054AspfsTer?
XM_011535118.1:c.3123_3124del	XP_011533420.1:p.Glu1041AspfsTer?
XM_011535119.1:c.3075_3076del	XP_011533421.1:p.Glu1025AspfsTer?
XM_011535120.1:c.2844_2845del	XP_011533422.1:p.Glu948AspfsTer?
XM_011535121.1:c.2745_2746del	XP_011533423.1:p.Glu915AspfsTer?
XM_011535122.1:c.1926_1927del	XP_011533424.1:p.Glu642AspfsTer?
XR_941601.1:n.3477_3478del
XR_941602.1:n.3477_3478del
XR_941603.1:n.3477_3478del
XR_941604.1:n.3477_3478del
NM_001330578.1:c.3024_3025del	NP_001317507.1:p.Glu1008AspfsTer?
NM_001330579.1:c.3006_3007del	NP_001317508.1:p.Glu1002AspfsTer?
XM_005266424.4:c.3162_3163del	XP_005266481.1:p.Glu1054AspfsTer?
XM_005266430.4:c.3258_3259del	XP_005266487.1:p.Glu1086AspfsTer?
XM_005266431.4:c.3222_3223del	XP_005266488.1:p.Glu1074AspfsTer?
XM_006719837.3:c.3162_3163del	XP_006719900.1:p.Glu1054AspfsTer?
XM_011535117.3:c.3162_3163del	XP_011533419.1:p.Glu1054AspfsTer?
XM_017020627.1:c.3162_3163del	XP_016876116.1:p.Glu1054AspfsTer?
NM_000053.4:c.3258_3259del MANE Select	NP_000044.2:p.Glu1086AspfsTer?
NM_001005918.3:c.2637_2638del	NP_001005918.1:p.Glu879AspfsTer?
NM_001330579.2:c.3006_3007del	NP_001317508.1:p.Glu1002AspfsTer?
NM_001243182.2:c.2925_2926del	NP_001230111.1:p.Glu975AspfsTer?
NM_001330578.2:c.3024_3025del	NP_001317507.1:p.Glu1008AspfsTer?