Canonical Allele Identifier: CA956032285

Gene: ATP7B

Linked Data

• gnomAD v3: 13-51974175-G-GTCGCC
• gnomAD v4: 13-51974175-G-GTCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51974175_51974176insTCGCC , CM000675.2:g.51974175_51974176insTCGCC	GRCh38
NC_000013.10:g.52548311_52548312insTCGCC , CM000675.1:g.52548311_52548312insTCGCC	GRCh37
NC_000013.9:g.51446312_51446313insTCGCC	NCBI36
NG_008806.1:g.42319_42320insGGCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1044_1045insGGCGA	ENSP00000489512.2:p.Pro349GlyfsTer16
ENST00000673864.2:c.1044_1045insGGCGA	ENSP00000501045.2:p.Pro349GlyfsTer16
ENST00000674147.2:c.1044_1045insGGCGA	ENSP00000500964.2:p.Pro349GlyfsTer16
ENST00000242839.10:c.1044_1045insGGCGA MANE Select	ENSP00000242839.5:p.Pro349GlyfsTer16
ENST00000344297.9:c.1044_1045insGGCGA	ENSP00000342559.5:p.Pro349GlyfsTer16
ENST00000400366.6:c.803-92_803-91insGGCGA	ENSP00000383217.3:n.803-92_803-91insGGCGA
ENST00000448424.7:c.1044_1045insGGCGA	ENSP00000416738.3:p.Pro349GlyfsTer16
ENST00000673772.1:c.1044_1045insGGCGA	ENSP00000501168.1:p.Pro349GlyfsTer16
ENST00000674078.1:n.1149_1150insGGCGA
ENST00000674147.1:c.600_601insGGCGA	ENSP00000500964.1:p.Pro201GlyfsTer16
ENST00000242839.8:c.1044_1045insGGCGA	ENSP00000242839.4:p.Pro349GlyfsTer16
ENST00000344297.8:c.1044_1045insGGCGA	ENSP00000342559.5:p.Pro349GlyfsTer16
ENST00000400366.5:c.803-92_803-91insGGCGA	ENSP00000383217.3:n.803-92_803-91insGGCGA
ENST00000400370.8:c.1044_1045insGGCGA	ENSP00000383221.3:p.Pro349GlyfsTer16
ENST00000418097.7:c.1044_1045insGGCGA	ENSP00000393343.2:p.Pro349GlyfsTer16
ENST00000448424.6:c.1044_1045insGGCGA	ENSP00000416738.2:p.Pro349GlyfsTer16
ENST00000482841.6:n.1165_1166insGGCGA
ENST00000634308.1:c.1044_1045insGGCGA	ENSP00000489234.1:p.Pro349GlyfsTer16
ENST00000634844.1:c.1044_1045insGGCGA	ENSP00000489398.1:p.Pro349GlyfsTer16
ENST00000635406.1:n.212-27698_212-27697insGGCGA
NM_000053.3:c.1044_1045insGGCGA	NP_000044.2:p.Pro349GlyfsTer16
NM_001005918.2:c.1044_1045insGGCGA	NP_001005918.1:p.Pro349GlyfsTer16
NM_001243182.1:c.803-92_803-91insGGCGA	NP_001230111.1:n.803-92_803-91insGGCGA
XM_005266423.2:c.948_949insGGCGA	XP_005266480.1:p.Pro317GlyfsTer16
XM_005266424.3:c.948_949insGGCGA	XP_005266481.1:p.Pro317GlyfsTer16
XM_005266427.2:c.1044_1045insGGCGA	XP_005266484.1:p.Pro349GlyfsTer16
XM_005266428.1:c.1044_1045insGGCGA	XP_005266485.1:p.Pro349GlyfsTer16
XM_005266430.3:c.1044_1045insGGCGA	XP_005266487.1:p.Pro349GlyfsTer16
XM_005266431.2:c.1008_1009insGGCGA	XP_005266488.1:p.Pro337GlyfsTer16
XM_005266432.2:c.1044_1045insGGCGA	XP_005266489.1:p.Pro349GlyfsTer16
XM_006719837.2:c.948_949insGGCGA	XP_006719900.1:p.Pro317GlyfsTer16
XM_011535117.1:c.948_949insGGCGA	XP_011533419.1:p.Pro317GlyfsTer16
XM_011535118.1:c.1044_1045insGGCGA	XP_011533420.1:p.Pro349GlyfsTer16
XM_011535119.1:c.1044_1045insGGCGA	XP_011533421.1:p.Pro349GlyfsTer16
XM_011535120.1:c.1044_1045insGGCGA	XP_011533422.1:p.Pro349GlyfsTer16
XM_011535121.1:c.1044_1045insGGCGA	XP_011533423.1:p.Pro349GlyfsTer16
XR_941601.1:n.1263_1264insGGCGA
XR_941602.1:n.1263_1264insGGCGA
XR_941603.1:n.1263_1264insGGCGA
XR_941604.1:n.1263_1264insGGCGA
NM_001330578.1:c.1044_1045insGGCGA	NP_001317507.1:p.Pro349GlyfsTer16
NM_001330579.1:c.1044_1045insGGCGA	NP_001317508.1:p.Pro349GlyfsTer16
XM_005266424.4:c.948_949insGGCGA	XP_005266481.1:p.Pro317GlyfsTer16
XM_005266430.4:c.1044_1045insGGCGA	XP_005266487.1:p.Pro349GlyfsTer16
XM_005266431.4:c.1008_1009insGGCGA	XP_005266488.1:p.Pro337GlyfsTer16
XM_006719837.3:c.948_949insGGCGA	XP_006719900.1:p.Pro317GlyfsTer16
XM_011535117.3:c.948_949insGGCGA	XP_011533419.1:p.Pro317GlyfsTer16
XM_017020627.1:c.948_949insGGCGA	XP_016876116.1:p.Pro317GlyfsTer16
NM_000053.4:c.1044_1045insGGCGA MANE Select	NP_000044.2:p.Pro349GlyfsTer16
NM_001005918.3:c.1044_1045insGGCGA	NP_001005918.1:p.Pro349GlyfsTer16
NM_001330579.2:c.1044_1045insGGCGA	NP_001317508.1:p.Pro349GlyfsTer16
NM_001243182.2:c.803-92_803-91insGGCGA	NP_001230111.1:n.803-92_803-91insGGCGA
NM_001330578.2:c.1044_1045insGGCGA	NP_001317507.1:p.Pro349GlyfsTer16