Canonical Allele Identifier: CA2623119618

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51974189-T-TCAATA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51974189_51974190insCAATA , CM000675.2:g.51974189_51974190insCAATA	GRCh38
NC_000013.10:g.52548325_52548326insCAATA , CM000675.1:g.52548325_52548326insCAATA	GRCh37
NC_000013.9:g.51446326_51446327insCAATA	NCBI36
NG_008806.1:g.42305_42306insTATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1030_1031insTATTG	ENSP00000489512.2:p.His344LeufsTer21
ENST00000673864.2:c.1030_1031insTATTG	ENSP00000501045.2:p.His344LeufsTer21
ENST00000674147.2:c.1030_1031insTATTG	ENSP00000500964.2:p.His344LeufsTer21
ENST00000242839.10:c.1030_1031insTATTG MANE Select	ENSP00000242839.5:p.His344LeufsTer21
ENST00000344297.9:c.1030_1031insTATTG	ENSP00000342559.5:p.His344LeufsTer21
ENST00000400366.6:c.803-106_803-105insTATTG	ENSP00000383217.3:n.803-106_803-105insTATTG
ENST00000448424.7:c.1030_1031insTATTG	ENSP00000416738.3:p.His344LeufsTer21
ENST00000673772.1:c.1030_1031insTATTG	ENSP00000501168.1:p.His344LeufsTer21
ENST00000674078.1:n.1135_1136insTATTG
ENST00000674147.1:c.586_587insTATTG	ENSP00000500964.1:p.His196LeufsTer21
ENST00000242839.8:c.1030_1031insTATTG	ENSP00000242839.4:p.His344LeufsTer21
ENST00000344297.8:c.1030_1031insTATTG	ENSP00000342559.5:p.His344LeufsTer21
ENST00000400366.5:c.803-106_803-105insTATTG	ENSP00000383217.3:n.803-106_803-105insTATTG
ENST00000400370.8:c.1030_1031insTATTG	ENSP00000383221.3:p.His344LeufsTer21
ENST00000418097.7:c.1030_1031insTATTG	ENSP00000393343.2:p.His344LeufsTer21
ENST00000448424.6:c.1030_1031insTATTG	ENSP00000416738.2:p.His344LeufsTer21
ENST00000482841.6:n.1151_1152insTATTG
ENST00000634308.1:c.1030_1031insTATTG	ENSP00000489234.1:p.His344LeufsTer21
ENST00000634844.1:c.1030_1031insTATTG	ENSP00000489398.1:p.His344LeufsTer21
ENST00000635406.1:n.212-27712_212-27711insTATTG
NM_000053.3:c.1030_1031insTATTG	NP_000044.2:p.His344LeufsTer21
NM_001005918.2:c.1030_1031insTATTG	NP_001005918.1:p.His344LeufsTer21
NM_001243182.1:c.803-106_803-105insTATTG	NP_001230111.1:n.803-106_803-105insTATTG
XM_005266423.2:c.934_935insTATTG	XP_005266480.1:p.His312LeufsTer21
XM_005266424.3:c.934_935insTATTG	XP_005266481.1:p.His312LeufsTer21
XM_005266427.2:c.1030_1031insTATTG	XP_005266484.1:p.His344LeufsTer21
XM_005266428.1:c.1030_1031insTATTG	XP_005266485.1:p.His344LeufsTer21
XM_005266430.3:c.1030_1031insTATTG	XP_005266487.1:p.His344LeufsTer21
XM_005266431.2:c.994_995insTATTG	XP_005266488.1:p.His332LeufsTer21
XM_005266432.2:c.1030_1031insTATTG	XP_005266489.1:p.His344LeufsTer21
XM_006719837.2:c.934_935insTATTG	XP_006719900.1:p.His312LeufsTer21
XM_011535117.1:c.934_935insTATTG	XP_011533419.1:p.His312LeufsTer21
XM_011535118.1:c.1030_1031insTATTG	XP_011533420.1:p.His344LeufsTer21
XM_011535119.1:c.1030_1031insTATTG	XP_011533421.1:p.His344LeufsTer21
XM_011535120.1:c.1030_1031insTATTG	XP_011533422.1:p.His344LeufsTer21
XM_011535121.1:c.1030_1031insTATTG	XP_011533423.1:p.His344LeufsTer21
XR_941601.1:n.1249_1250insTATTG
XR_941602.1:n.1249_1250insTATTG
XR_941603.1:n.1249_1250insTATTG
XR_941604.1:n.1249_1250insTATTG
NM_001330578.1:c.1030_1031insTATTG	NP_001317507.1:p.His344LeufsTer21
NM_001330579.1:c.1030_1031insTATTG	NP_001317508.1:p.His344LeufsTer21
XM_005266424.4:c.934_935insTATTG	XP_005266481.1:p.His312LeufsTer21
XM_005266430.4:c.1030_1031insTATTG	XP_005266487.1:p.His344LeufsTer21
XM_005266431.4:c.994_995insTATTG	XP_005266488.1:p.His332LeufsTer21
XM_006719837.3:c.934_935insTATTG	XP_006719900.1:p.His312LeufsTer21
XM_011535117.3:c.934_935insTATTG	XP_011533419.1:p.His312LeufsTer21
XM_017020627.1:c.934_935insTATTG	XP_016876116.1:p.His312LeufsTer21
NM_000053.4:c.1030_1031insTATTG MANE Select	NP_000044.2:p.His344LeufsTer21
NM_001005918.3:c.1030_1031insTATTG	NP_001005918.1:p.His344LeufsTer21
NM_001330579.2:c.1030_1031insTATTG	NP_001317508.1:p.His344LeufsTer21
NM_001243182.2:c.803-106_803-105insTATTG	NP_001230111.1:n.803-106_803-105insTATTG
NM_001330578.2:c.1030_1031insTATTG	NP_001317507.1:p.His344LeufsTer21