Canonical Allele Identifier: CA2623119629

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 3075806
• ClinVar RCV Id: RCV004018124
• gnomAD v4: 13-51939100-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939102del , CM000675.2:g.51939102del	GRCh38
NC_000013.10:g.52513238del , CM000675.1:g.52513238del	GRCh37
NC_000013.9:g.51411239del	NCBI36
NG_008806.1:g.77394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1299del	ENSP00000489512.2:n.*1299del
ENST00000673864.2:c.*2393del	ENSP00000501045.2:n.*2393del
ENST00000674147.2:c.3028del	ENSP00000500964.2:p.Val1010PhefsTer2
ENST00000242839.10:c.3649del MANE Select	ENSP00000242839.5:p.Val1217PhefsTer2
ENST00000344297.9:c.3028del	ENSP00000342559.5:p.Val1010PhefsTer2
ENST00000400366.6:c.3316del	ENSP00000383217.3:p.Val1106PhefsTer2
ENST00000448424.7:c.3397del	ENSP00000416738.3:p.Val1133PhefsTer2
ENST00000673696.1:n.890del
ENST00000673772.1:c.3415del	ENSP00000501168.1:p.Val1139PhefsTer2
ENST00000673867.1:n.3788del
ENST00000673923.1:n.515del
ENST00000674147.1:c.2584del	ENSP00000500964.1:p.Val862PhefsTer2
ENST00000242839.8:c.3649del	ENSP00000242839.4:p.Val1217PhefsTer2
ENST00000344297.8:c.3028del	ENSP00000342559.5:p.Val1010PhefsTer2
ENST00000400366.5:c.3316del	ENSP00000383217.3:p.Val1106PhefsTer2
ENST00000400370.8:c.2359del	ENSP00000383221.3:p.Val787PhefsTer2
ENST00000418097.7:c.3454del	ENSP00000393343.2:p.Val1152PhefsTer2
ENST00000448424.6:c.3415del	ENSP00000416738.2:p.Val1139PhefsTer2
ENST00000634296.1:c.1427del
ENST00000634308.1:c.*750del	ENSP00000489234.1:n.*750del
ENST00000634620.1:n.4393del
ENST00000634810.1:n.2994del
ENST00000634844.1:c.3505del	ENSP00000489398.1:p.Val1169PhefsTer2
NM_000053.3:c.3649del	NP_000044.2:p.Val1217PhefsTer2
NM_001005918.2:c.3028del	NP_001005918.1:p.Val1010PhefsTer2
NM_001243182.1:c.3316del	NP_001230111.1:p.Val1106PhefsTer2
XM_005266423.2:c.3553del	XP_005266480.1:p.Val1185PhefsTer2
XM_005266424.3:c.3553del	XP_005266481.1:p.Val1185PhefsTer2
XM_005266427.2:c.3415del	XP_005266484.1:p.Val1139PhefsTer2
XM_005266428.1:c.3397del	XP_005266485.1:p.Val1133PhefsTer2
XM_005266430.3:c.3649del	XP_005266487.1:p.Val1217PhefsTer2
XM_005266431.2:c.3613del	XP_005266488.1:p.Val1205PhefsTer2
XM_005266432.2:c.3163del	XP_005266489.1:p.Val1055PhefsTer2
XM_006719837.2:c.3553del	XP_006719900.1:p.Val1185PhefsTer2
XM_006719838.1:c.1465del	XP_006719901.1:p.Val489PhefsTer2
XM_006719839.1:c.1282del	XP_006719902.1:p.Val428PhefsTer2
XM_011535117.1:c.3553del	XP_011533419.1:p.Val1185PhefsTer2
XM_011535118.1:c.3514del	XP_011533420.1:p.Val1172PhefsTer2
XM_011535119.1:c.3466del	XP_011533421.1:p.Val1156PhefsTer2
XM_011535120.1:c.3235del	XP_011533422.1:p.Val1079PhefsTer2
XM_011535121.1:c.3136del	XP_011533423.1:p.Val1046PhefsTer2
XM_011535122.1:c.2317del	XP_011533424.1:p.Val773PhefsTer2
XR_941601.1:n.3868del
XR_941602.1:n.3868del
XR_941603.1:n.3868del
XR_941604.1:n.3868del
NM_001330578.1:c.3415del	NP_001317507.1:p.Val1139PhefsTer2
NM_001330579.1:c.3397del	NP_001317508.1:p.Val1133PhefsTer2
XM_005266424.4:c.3553del	XP_005266481.1:p.Val1185PhefsTer2
XM_005266430.4:c.3649del	XP_005266487.1:p.Val1217PhefsTer2
XM_005266431.4:c.3613del	XP_005266488.1:p.Val1205PhefsTer2
XM_006719837.3:c.3553del	XP_006719900.1:p.Val1185PhefsTer2
XM_011535117.3:c.3553del	XP_011533419.1:p.Val1185PhefsTer2
XM_017020627.1:c.3553del	XP_016876116.1:p.Val1185PhefsTer2
NM_000053.4:c.3649del MANE Select	NP_000044.2:p.Val1217PhefsTer2
NM_001005918.3:c.3028del	NP_001005918.1:p.Val1010PhefsTer2
NM_001330579.2:c.3397del	NP_001317508.1:p.Val1133PhefsTer2
NM_001243182.2:c.3316del	NP_001230111.1:p.Val1106PhefsTer2
NM_001330578.2:c.3415del	NP_001317507.1:p.Val1139PhefsTer2