Canonical Allele Identifier: CA2573149694

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1459876
• ClinVar RCV Id: RCV001982927
• dbSNP Id: rs2138571104

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937489_51937496del , CM000675.2:g.51937489_51937496del	GRCh38
NC_000013.10:g.52511625_52511632del , CM000675.1:g.52511625_52511632del	GRCh37
NC_000013.9:g.51409626_51409633del	NCBI36
NG_008806.1:g.78999_79006del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1533_*1540del	ENSP00000489512.2:n.*1533_*1540del
ENST00000673864.2:c.*2627_*2634del	ENSP00000501045.2:n.*2627_*2634del
ENST00000674147.2:c.3262_3269del	ENSP00000500964.2:p.Ala1088ArgfsTer6
ENST00000242839.10:c.3883_3890del MANE Select	ENSP00000242839.5:p.Ala1295ArgfsTer6
ENST00000344297.9:c.3262_3269del	ENSP00000342559.5:p.Ala1088ArgfsTer6
ENST00000400366.6:c.3550_3557del	ENSP00000383217.3:p.Ala1184ArgfsTer6
ENST00000448424.7:c.3631_3638del	ENSP00000416738.3:p.Ala1211ArgfsTer6
ENST00000673696.1:n.1124_1131del
ENST00000673772.1:c.3649_3656del	ENSP00000501168.1:p.Ala1217ArgfsTer6
ENST00000673867.1:n.4022_4029del
ENST00000673923.1:n.749_756del
ENST00000674147.1:c.2818_2825del	ENSP00000500964.1:p.Ala940ArgfsTer6
ENST00000242839.8:c.3883_3890del	ENSP00000242839.4:p.Ala1295ArgfsTer6
ENST00000344297.8:c.3262_3269del	ENSP00000342559.5:p.Ala1088ArgfsTer6
ENST00000400366.5:c.3550_3557del	ENSP00000383217.3:p.Ala1184ArgfsTer6
ENST00000400370.8:c.2593_2600del	ENSP00000383221.3:p.Ala865ArgfsTer6
ENST00000418097.7:c.3688_3695del	ENSP00000393343.2:p.Ala1230ArgfsTer6
ENST00000448424.6:c.3649_3656del	ENSP00000416738.2:p.Ala1217ArgfsTer6
ENST00000634296.1:c.1661_1668del
ENST00000634308.1:c.*984_*991del	ENSP00000489234.1:n.*984_*991del
ENST00000634620.1:n.4627_4634del
ENST00000634810.1:n.3228_3235del
ENST00000634844.1:c.3739_3746del	ENSP00000489398.1:p.Ala1247ArgfsTer6
NM_000053.3:c.3883_3890del	NP_000044.2:p.Ala1295ArgfsTer6
NM_001005918.2:c.3262_3269del	NP_001005918.1:p.Ala1088ArgfsTer6
NM_001243182.1:c.3550_3557del	NP_001230111.1:p.Ala1184ArgfsTer6
XM_005266423.2:c.3787_3794del	XP_005266480.1:p.Ala1263ArgfsTer6
XM_005266424.3:c.3787_3794del	XP_005266481.1:p.Ala1263ArgfsTer6
XM_005266427.2:c.3649_3656del	XP_005266484.1:p.Ala1217ArgfsTer6
XM_005266428.1:c.3631_3638del	XP_005266485.1:p.Ala1211ArgfsTer6
XM_005266430.3:c.3883_3890del	XP_005266487.1:p.Ala1295ArgfsTer6
XM_005266431.2:c.3847_3854del	XP_005266488.1:p.Ala1283ArgfsTer6
XM_005266432.2:c.3397_3404del	XP_005266489.1:p.Ala1133ArgfsTer6
XM_006719837.2:c.3787_3794del	XP_006719900.1:p.Ala1263ArgfsTer6
XM_006719838.1:c.1699_1706del	XP_006719901.1:p.Ala567ArgfsTer6
XM_006719839.1:c.1516_1523del	XP_006719902.1:p.Ala506ArgfsTer6
XM_011535117.1:c.3787_3794del	XP_011533419.1:p.Ala1263ArgfsTer6
XM_011535118.1:c.3748_3755del	XP_011533420.1:p.Ala1250ArgfsTer6
XM_011535119.1:c.3700_3707del	XP_011533421.1:p.Ala1234ArgfsTer6
XM_011535120.1:c.3469_3476del	XP_011533422.1:p.Ala1157ArgfsTer6
XM_011535121.1:c.3370_3377del	XP_011533423.1:p.Ala1124ArgfsTer6
XM_011535122.1:c.2551_2558del	XP_011533424.1:p.Ala851ArgfsTer6
XR_941601.1:n.4102_4109del
XR_941602.1:n.4102_4109del
XR_941603.1:n.4102_4109del
XR_941604.1:n.4102_4109del
NM_001330578.1:c.3649_3656del	NP_001317507.1:p.Ala1217ArgfsTer6
NM_001330579.1:c.3631_3638del	NP_001317508.1:p.Ala1211ArgfsTer6
XM_005266424.4:c.3787_3794del	XP_005266481.1:p.Ala1263ArgfsTer6
XM_005266430.4:c.3883_3890del	XP_005266487.1:p.Ala1295ArgfsTer6
XM_005266431.4:c.3847_3854del	XP_005266488.1:p.Ala1283ArgfsTer6
XM_006719837.3:c.3787_3794del	XP_006719900.1:p.Ala1263ArgfsTer6
XM_011535117.3:c.3787_3794del	XP_011533419.1:p.Ala1263ArgfsTer6
XM_017020627.1:c.3787_3794del	XP_016876116.1:p.Ala1263ArgfsTer6
NM_000053.4:c.3883_3890del MANE Select	NP_000044.2:p.Ala1295ArgfsTer6
NM_001005918.3:c.3262_3269del	NP_001005918.1:p.Ala1088ArgfsTer6
NM_001330579.2:c.3631_3638del	NP_001317508.1:p.Ala1211ArgfsTer6
NM_001243182.2:c.3550_3557del	NP_001230111.1:p.Ala1184ArgfsTer6
NM_001330578.2:c.3649_3656del	NP_001317507.1:p.Ala1217ArgfsTer6