Canonical Allele Identifier: CA2623119065

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51937351-TCTTGGAAAGGTGAATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937354_51937369del , CM000675.2:g.51937354_51937369del	GRCh38
NC_000013.10:g.52511490_52511505del , CM000675.1:g.52511490_52511505del	GRCh37
NC_000013.9:g.51409491_51409506del	NCBI36
NG_008806.1:g.79128_79143del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1580_*1595del	ENSP00000489512.2:n.*1580_*1595del
ENST00000673864.2:c.*2674_*2689del	ENSP00000501045.2:n.*2674_*2689del
ENST00000674147.2:c.3309_3324del	ENSP00000500964.2:p.Ser1103ArgfsTer15
ENST00000242839.10:c.3930_3945del MANE Select	ENSP00000242839.5:p.Ser1310ArgfsTer15
ENST00000344297.9:c.3309_3324del	ENSP00000342559.5:p.Ser1103ArgfsTer15
ENST00000400366.6:c.3597_3612del	ENSP00000383217.3:p.Ser1199ArgfsTer15
ENST00000448424.7:c.3678_3693del	ENSP00000416738.3:p.Ser1226ArgfsTer15
ENST00000673696.1:n.1253_1268del
ENST00000673772.1:c.3696_3711del	ENSP00000501168.1:p.Ser1232ArgfsTer15
ENST00000673867.1:n.4069_4084del
ENST00000673923.1:n.796_811del
ENST00000674147.1:c.2865_2880del	ENSP00000500964.1:p.Ser955ArgfsTer15
ENST00000242839.8:c.3930_3945del	ENSP00000242839.4:p.Ser1310ArgfsTer15
ENST00000344297.8:c.3309_3324del	ENSP00000342559.5:p.Ser1103ArgfsTer15
ENST00000400366.5:c.3597_3612del	ENSP00000383217.3:p.Ser1199ArgfsTer15
ENST00000400370.8:c.2640_2655del	ENSP00000383221.3:p.Ser880ArgfsTer15
ENST00000418097.7:c.3735_3750del	ENSP00000393343.2:p.Ser1245ArgfsTer15
ENST00000448424.6:c.3696_3711del	ENSP00000416738.2:p.Ser1232ArgfsTer15
ENST00000634296.1:c.1708_1723del
ENST00000634308.1:c.*1031_*1046del	ENSP00000489234.1:n.*1031_*1046del
ENST00000634620.1:n.4674_4689del
ENST00000634810.1:n.3275_3290del
ENST00000634844.1:c.3786_3801del	ENSP00000489398.1:p.Ser1262ArgfsTer15
NM_000053.3:c.3930_3945del	NP_000044.2:p.Ser1310ArgfsTer15
NM_001005918.2:c.3309_3324del	NP_001005918.1:p.Ser1103ArgfsTer15
NM_001243182.1:c.3597_3612del	NP_001230111.1:p.Ser1199ArgfsTer15
XM_005266423.2:c.3834_3849del	XP_005266480.1:p.Ser1278ArgfsTer15
XM_005266424.3:c.3834_3849del	XP_005266481.1:p.Ser1278ArgfsTer15
XM_005266427.2:c.3696_3711del	XP_005266484.1:p.Ser1232ArgfsTer15
XM_005266428.1:c.3678_3693del	XP_005266485.1:p.Ser1226ArgfsTer15
XM_005266430.3:c.3930_3945del	XP_005266487.1:p.Ser1310ArgfsTer15
XM_005266431.2:c.3894_3909del	XP_005266488.1:p.Ser1298ArgfsTer15
XM_005266432.2:c.3444_3459del	XP_005266489.1:p.Ser1148ArgfsTer15
XM_006719837.2:c.3834_3849del	XP_006719900.1:p.Ser1278ArgfsTer15
XM_006719838.1:c.1746_1761del	XP_006719901.1:p.Ser582ArgfsTer15
XM_006719839.1:c.1563_1578del	XP_006719902.1:p.Ser521ArgfsTer15
XM_011535117.1:c.3834_3849del	XP_011533419.1:p.Ser1278ArgfsTer15
XM_011535118.1:c.3795_3810del	XP_011533420.1:p.Ser1265ArgfsTer15
XM_011535119.1:c.3747_3762del	XP_011533421.1:p.Ser1249ArgfsTer15
XM_011535120.1:c.3516_3531del	XP_011533422.1:p.Ser1172ArgfsTer15
XM_011535121.1:c.3417_3432del	XP_011533423.1:p.Ser1139ArgfsTer15
XM_011535122.1:c.2598_2613del	XP_011533424.1:p.Ser866ArgfsTer15
XR_941601.1:n.4149_4164del
XR_941602.1:n.4149_4164del
XR_941603.1:n.4149_4164del
XR_941604.1:n.4149_4164del
NM_001330578.1:c.3696_3711del	NP_001317507.1:p.Ser1232ArgfsTer15
NM_001330579.1:c.3678_3693del	NP_001317508.1:p.Ser1226ArgfsTer15
XM_005266424.4:c.3834_3849del	XP_005266481.1:p.Ser1278ArgfsTer15
XM_005266430.4:c.3930_3945del	XP_005266487.1:p.Ser1310ArgfsTer15
XM_005266431.4:c.3894_3909del	XP_005266488.1:p.Ser1298ArgfsTer15
XM_006719837.3:c.3834_3849del	XP_006719900.1:p.Ser1278ArgfsTer15
XM_011535117.3:c.3834_3849del	XP_011533419.1:p.Ser1278ArgfsTer15
XM_017020627.1:c.3834_3849del	XP_016876116.1:p.Ser1278ArgfsTer15
NM_000053.4:c.3930_3945del MANE Select	NP_000044.2:p.Ser1310ArgfsTer15
NM_001005918.3:c.3309_3324del	NP_001005918.1:p.Ser1103ArgfsTer15
NM_001330579.2:c.3678_3693del	NP_001317508.1:p.Ser1226ArgfsTer15
NM_001243182.2:c.3597_3612del	NP_001230111.1:p.Ser1199ArgfsTer15
NM_001330578.2:c.3696_3711del	NP_001317507.1:p.Ser1232ArgfsTer15