Canonical Allele Identifier: CA2580087700

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1724164
• ClinVar RCV Id: RCV002306719

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937362_51937363del , CM000675.2:g.51937362_51937363del	GRCh38
NC_000013.10:g.52511498_52511499del , CM000675.1:g.52511498_52511499del	GRCh37
NC_000013.9:g.51409499_51409500del	NCBI36
NG_008806.1:g.79133_79134del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1585_*1586del	ENSP00000489512.2:n.*1585_*1586del
ENST00000673864.2:c.*2679_*2680del	ENSP00000501045.2:n.*2679_*2680del
ENST00000674147.2:c.3314_3315del	ENSP00000500964.2:p.His1105ProfsTer20
ENST00000242839.10:c.3935_3936del MANE Select	ENSP00000242839.5:p.His1312ProfsTer20
ENST00000344297.9:c.3314_3315del	ENSP00000342559.5:p.His1105ProfsTer20
ENST00000400366.6:c.3602_3603del	ENSP00000383217.3:p.His1201ProfsTer20
ENST00000448424.7:c.3683_3684del	ENSP00000416738.3:p.His1228ProfsTer20
ENST00000673696.1:n.1258_1259del
ENST00000673772.1:c.3701_3702del	ENSP00000501168.1:p.His1234ProfsTer20
ENST00000673867.1:n.4074_4075del
ENST00000673923.1:n.801_802del
ENST00000674147.1:c.2870_2871del	ENSP00000500964.1:p.His957ProfsTer20
ENST00000242839.8:c.3935_3936del	ENSP00000242839.4:p.His1312ProfsTer20
ENST00000344297.8:c.3314_3315del	ENSP00000342559.5:p.His1105ProfsTer20
ENST00000400366.5:c.3602_3603del	ENSP00000383217.3:p.His1201ProfsTer20
ENST00000400370.8:c.2645_2646del	ENSP00000383221.3:p.His882ProfsTer20
ENST00000418097.7:c.3740_3741del	ENSP00000393343.2:p.His1247ProfsTer20
ENST00000448424.6:c.3701_3702del	ENSP00000416738.2:p.His1234ProfsTer20
ENST00000634296.1:c.1713_1714del
ENST00000634308.1:c.*1036_*1037del	ENSP00000489234.1:n.*1036_*1037del
ENST00000634620.1:n.4679_4680del
ENST00000634810.1:n.3280_3281del
ENST00000634844.1:c.3791_3792del	ENSP00000489398.1:p.His1264ProfsTer20
NM_000053.3:c.3935_3936del	NP_000044.2:p.His1312ProfsTer20
NM_001005918.2:c.3314_3315del	NP_001005918.1:p.His1105ProfsTer20
NM_001243182.1:c.3602_3603del	NP_001230111.1:p.His1201ProfsTer20
XM_005266423.2:c.3839_3840del	XP_005266480.1:p.His1280ProfsTer20
XM_005266424.3:c.3839_3840del	XP_005266481.1:p.His1280ProfsTer20
XM_005266427.2:c.3701_3702del	XP_005266484.1:p.His1234ProfsTer20
XM_005266428.1:c.3683_3684del	XP_005266485.1:p.His1228ProfsTer20
XM_005266430.3:c.3935_3936del	XP_005266487.1:p.His1312ProfsTer20
XM_005266431.2:c.3899_3900del	XP_005266488.1:p.His1300ProfsTer20
XM_005266432.2:c.3449_3450del	XP_005266489.1:p.His1150ProfsTer20
XM_006719837.2:c.3839_3840del	XP_006719900.1:p.His1280ProfsTer20
XM_006719838.1:c.1751_1752del	XP_006719901.1:p.His584ProfsTer20
XM_006719839.1:c.1568_1569del	XP_006719902.1:p.His523ProfsTer20
XM_011535117.1:c.3839_3840del	XP_011533419.1:p.His1280ProfsTer20
XM_011535118.1:c.3800_3801del	XP_011533420.1:p.His1267ProfsTer20
XM_011535119.1:c.3752_3753del	XP_011533421.1:p.His1251ProfsTer20
XM_011535120.1:c.3521_3522del	XP_011533422.1:p.His1174ProfsTer20
XM_011535121.1:c.3422_3423del	XP_011533423.1:p.His1141ProfsTer20
XM_011535122.1:c.2603_2604del	XP_011533424.1:p.His868ProfsTer20
XR_941601.1:n.4154_4155del
XR_941602.1:n.4154_4155del
XR_941603.1:n.4154_4155del
XR_941604.1:n.4154_4155del
NM_001330578.1:c.3701_3702del	NP_001317507.1:p.His1234ProfsTer20
NM_001330579.1:c.3683_3684del	NP_001317508.1:p.His1228ProfsTer20
XM_005266424.4:c.3839_3840del	XP_005266481.1:p.His1280ProfsTer20
XM_005266430.4:c.3935_3936del	XP_005266487.1:p.His1312ProfsTer20
XM_005266431.4:c.3899_3900del	XP_005266488.1:p.His1300ProfsTer20
XM_006719837.3:c.3839_3840del	XP_006719900.1:p.His1280ProfsTer20
XM_011535117.3:c.3839_3840del	XP_011533419.1:p.His1280ProfsTer20
XM_017020627.1:c.3839_3840del	XP_016876116.1:p.His1280ProfsTer20
NM_000053.4:c.3935_3936del MANE Select	NP_000044.2:p.His1312ProfsTer20
NM_001005918.3:c.3314_3315del	NP_001005918.1:p.His1105ProfsTer20
NM_001330579.2:c.3683_3684del	NP_001317508.1:p.His1228ProfsTer20
NM_001243182.2:c.3602_3603del	NP_001230111.1:p.His1201ProfsTer20
NM_001330578.2:c.3701_3702del	NP_001317507.1:p.His1234ProfsTer20