Canonical Allele Identifier: CA2623119089

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51937365-ATGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937366_51937369del , CM000675.2:g.51937366_51937369del	GRCh38
NC_000013.10:g.52511502_52511505del , CM000675.1:g.52511502_52511505del	GRCh37
NC_000013.9:g.51409503_51409506del	NCBI36
NG_008806.1:g.79126_79129del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1578_*1581del	ENSP00000489512.2:n.*1578_*1581del
ENST00000673864.2:c.*2672_*2675del	ENSP00000501045.2:n.*2672_*2675del
ENST00000674147.2:c.3307_3310del	ENSP00000500964.2:p.Ser1103PhefsTer19
ENST00000242839.10:c.3928_3931del MANE Select	ENSP00000242839.5:p.Ser1310PhefsTer19
ENST00000344297.9:c.3307_3310del	ENSP00000342559.5:p.Ser1103PhefsTer19
ENST00000400366.6:c.3595_3598del	ENSP00000383217.3:p.Ser1199PhefsTer19
ENST00000448424.7:c.3676_3679del	ENSP00000416738.3:p.Ser1226PhefsTer19
ENST00000673696.1:n.1251_1254del
ENST00000673772.1:c.3694_3697del	ENSP00000501168.1:p.Ser1232PhefsTer19
ENST00000673867.1:n.4067_4070del
ENST00000673923.1:n.794_797del
ENST00000674147.1:c.2863_2866del	ENSP00000500964.1:p.Ser955PhefsTer19
ENST00000242839.8:c.3928_3931del	ENSP00000242839.4:p.Ser1310PhefsTer19
ENST00000344297.8:c.3307_3310del	ENSP00000342559.5:p.Ser1103PhefsTer19
ENST00000400366.5:c.3595_3598del	ENSP00000383217.3:p.Ser1199PhefsTer19
ENST00000400370.8:c.2638_2641del	ENSP00000383221.3:p.Ser880PhefsTer19
ENST00000418097.7:c.3733_3736del	ENSP00000393343.2:p.Ser1245PhefsTer19
ENST00000448424.6:c.3694_3697del	ENSP00000416738.2:p.Ser1232PhefsTer19
ENST00000634296.1:c.1706_1709del
ENST00000634308.1:c.*1029_*1032del	ENSP00000489234.1:n.*1029_*1032del
ENST00000634620.1:n.4672_4675del
ENST00000634810.1:n.3273_3276del
ENST00000634844.1:c.3784_3787del	ENSP00000489398.1:p.Ser1262PhefsTer19
NM_000053.3:c.3928_3931del	NP_000044.2:p.Ser1310PhefsTer19
NM_001005918.2:c.3307_3310del	NP_001005918.1:p.Ser1103PhefsTer19
NM_001243182.1:c.3595_3598del	NP_001230111.1:p.Ser1199PhefsTer19
XM_005266423.2:c.3832_3835del	XP_005266480.1:p.Ser1278PhefsTer19
XM_005266424.3:c.3832_3835del	XP_005266481.1:p.Ser1278PhefsTer19
XM_005266427.2:c.3694_3697del	XP_005266484.1:p.Ser1232PhefsTer19
XM_005266428.1:c.3676_3679del	XP_005266485.1:p.Ser1226PhefsTer19
XM_005266430.3:c.3928_3931del	XP_005266487.1:p.Ser1310PhefsTer19
XM_005266431.2:c.3892_3895del	XP_005266488.1:p.Ser1298PhefsTer19
XM_005266432.2:c.3442_3445del	XP_005266489.1:p.Ser1148PhefsTer19
XM_006719837.2:c.3832_3835del	XP_006719900.1:p.Ser1278PhefsTer19
XM_006719838.1:c.1744_1747del	XP_006719901.1:p.Ser582PhefsTer19
XM_006719839.1:c.1561_1564del	XP_006719902.1:p.Ser521PhefsTer19
XM_011535117.1:c.3832_3835del	XP_011533419.1:p.Ser1278PhefsTer19
XM_011535118.1:c.3793_3796del	XP_011533420.1:p.Ser1265PhefsTer19
XM_011535119.1:c.3745_3748del	XP_011533421.1:p.Ser1249PhefsTer19
XM_011535120.1:c.3514_3517del	XP_011533422.1:p.Ser1172PhefsTer19
XM_011535121.1:c.3415_3418del	XP_011533423.1:p.Ser1139PhefsTer19
XM_011535122.1:c.2596_2599del	XP_011533424.1:p.Ser866PhefsTer19
XR_941601.1:n.4147_4150del
XR_941602.1:n.4147_4150del
XR_941603.1:n.4147_4150del
XR_941604.1:n.4147_4150del
NM_001330578.1:c.3694_3697del	NP_001317507.1:p.Ser1232PhefsTer19
NM_001330579.1:c.3676_3679del	NP_001317508.1:p.Ser1226PhefsTer19
XM_005266424.4:c.3832_3835del	XP_005266481.1:p.Ser1278PhefsTer19
XM_005266430.4:c.3928_3931del	XP_005266487.1:p.Ser1310PhefsTer19
XM_005266431.4:c.3892_3895del	XP_005266488.1:p.Ser1298PhefsTer19
XM_006719837.3:c.3832_3835del	XP_006719900.1:p.Ser1278PhefsTer19
XM_011535117.3:c.3832_3835del	XP_011533419.1:p.Ser1278PhefsTer19
XM_017020627.1:c.3832_3835del	XP_016876116.1:p.Ser1278PhefsTer19
NM_000053.4:c.3928_3931del MANE Select	NP_000044.2:p.Ser1310PhefsTer19
NM_001005918.3:c.3307_3310del	NP_001005918.1:p.Ser1103PhefsTer19
NM_001330579.2:c.3676_3679del	NP_001317508.1:p.Ser1226PhefsTer19
NM_001243182.2:c.3595_3598del	NP_001230111.1:p.Ser1199PhefsTer19
NM_001330578.2:c.3694_3697del	NP_001317507.1:p.Ser1232PhefsTer19