Canonical Allele Identifier: CA2580614739

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1379290
• ClinVar RCV Id: RCV001914818
• dbSNP Id: rs2138673853

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939192_51939193del , CM000675.2:g.51939192_51939193del	GRCh38
NC_000013.10:g.52513328_52513329del , CM000675.1:g.52513328_52513329del	GRCh37
NC_000013.9:g.51411329_51411330del	NCBI36
NG_008806.1:g.77305_77306del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1210_*1211del	ENSP00000489512.2:n.*1210_*1211del
ENST00000673864.2:c.*2304_*2305del	ENSP00000501045.2:n.*2304_*2305del
ENST00000674147.2:c.2939_2940del	ENSP00000500964.2:p.Val980AlafsTer?
ENST00000242839.10:c.3560_3561del MANE Select	ENSP00000242839.5:p.Val1187AlafsTer?
ENST00000344297.9:c.2939_2940del	ENSP00000342559.5:p.Val980AlafsTer?
ENST00000400366.6:c.3227_3228del	ENSP00000383217.3:p.Val1076AlafsTer?
ENST00000448424.7:c.3308_3309del	ENSP00000416738.3:p.Val1103AlafsTer?
ENST00000673696.1:n.801_802del
ENST00000673772.1:c.3326_3327del	ENSP00000501168.1:p.Val1109AlafsTer?
ENST00000673867.1:n.3699_3700del
ENST00000673923.1:n.426_427del
ENST00000674147.1:c.2495_2496del	ENSP00000500964.1:p.Val832AlafsTer?
ENST00000242839.8:c.3560_3561del	ENSP00000242839.4:p.Val1187AlafsTer?
ENST00000344297.8:c.2939_2940del	ENSP00000342559.5:p.Val980AlafsTer?
ENST00000400366.5:c.3227_3228del	ENSP00000383217.3:p.Val1076AlafsTer?
ENST00000400370.8:c.2270_2271del	ENSP00000383221.3:p.Val757AlafsTer?
ENST00000418097.7:c.3365_3366del	ENSP00000393343.2:p.Val1122AlafsTer?
ENST00000448424.6:c.3326_3327del	ENSP00000416738.2:p.Val1109AlafsTer?
ENST00000634296.1:c.1338_1339del
ENST00000634308.1:c.*661_*662del	ENSP00000489234.1:n.*661_*662del
ENST00000634620.1:n.4304_4305del
ENST00000634810.1:n.2905_2906del
ENST00000634844.1:c.3416_3417del	ENSP00000489398.1:p.Val1139AlafsTer?
NM_000053.3:c.3560_3561del	NP_000044.2:p.Val1187AlafsTer?
NM_001005918.2:c.2939_2940del	NP_001005918.1:p.Val980AlafsTer?
NM_001243182.1:c.3227_3228del	NP_001230111.1:p.Val1076AlafsTer?
XM_005266423.2:c.3464_3465del	XP_005266480.1:p.Val1155AlafsTer?
XM_005266424.3:c.3464_3465del	XP_005266481.1:p.Val1155AlafsTer?
XM_005266427.2:c.3326_3327del	XP_005266484.1:p.Val1109AlafsTer?
XM_005266428.1:c.3308_3309del	XP_005266485.1:p.Val1103AlafsTer?
XM_005266430.3:c.3560_3561del	XP_005266487.1:p.Val1187AlafsTer?
XM_005266431.2:c.3524_3525del	XP_005266488.1:p.Val1175AlafsTer?
XM_005266432.2:c.3074_3075del	XP_005266489.1:p.Val1025AlafsTer?
XM_006719837.2:c.3464_3465del	XP_006719900.1:p.Val1155AlafsTer?
XM_006719838.1:c.1376_1377del	XP_006719901.1:p.Val459AlafsTer?
XM_006719839.1:c.1193_1194del	XP_006719902.1:p.Val398AlafsTer?
XM_011535117.1:c.3464_3465del	XP_011533419.1:p.Val1155AlafsTer?
XM_011535118.1:c.3425_3426del	XP_011533420.1:p.Val1142AlafsTer?
XM_011535119.1:c.3377_3378del	XP_011533421.1:p.Val1126AlafsTer?
XM_011535120.1:c.3146_3147del	XP_011533422.1:p.Val1049AlafsTer?
XM_011535121.1:c.3047_3048del	XP_011533423.1:p.Val1016AlafsTer?
XM_011535122.1:c.2228_2229del	XP_011533424.1:p.Val743AlafsTer?
XR_941601.1:n.3779_3780del
XR_941602.1:n.3779_3780del
XR_941603.1:n.3779_3780del
XR_941604.1:n.3779_3780del
NM_001330578.1:c.3326_3327del	NP_001317507.1:p.Val1109AlafsTer?
NM_001330579.1:c.3308_3309del	NP_001317508.1:p.Val1103AlafsTer?
XM_005266424.4:c.3464_3465del	XP_005266481.1:p.Val1155AlafsTer?
XM_005266430.4:c.3560_3561del	XP_005266487.1:p.Val1187AlafsTer?
XM_005266431.4:c.3524_3525del	XP_005266488.1:p.Val1175AlafsTer?
XM_006719837.3:c.3464_3465del	XP_006719900.1:p.Val1155AlafsTer?
XM_011535117.3:c.3464_3465del	XP_011533419.1:p.Val1155AlafsTer?
XM_017020627.1:c.3464_3465del	XP_016876116.1:p.Val1155AlafsTer?
NM_000053.4:c.3560_3561del MANE Select	NP_000044.2:p.Val1187AlafsTer?
NM_001005918.3:c.2939_2940del	NP_001005918.1:p.Val980AlafsTer?
NM_001330579.2:c.3308_3309del	NP_001317508.1:p.Val1103AlafsTer?
NM_001243182.2:c.3227_3228del	NP_001230111.1:p.Val1076AlafsTer?
NM_001330578.2:c.3326_3327del	NP_001317507.1:p.Val1109AlafsTer?