Canonical Allele Identifier: CA2091557053

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51974047_51974048delinsCG , CM000675.2:g.51974047_51974048delinsCG	GRCh38
NC_000013.10:g.52548183_52548184delinsCG , CM000675.1:g.52548183_52548184delinsCG	GRCh37
NC_000013.9:g.51446184_51446185delinsCG	NCBI36
NG_008806.1:g.42447_42448delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1172_1173delinsCG	ENSP00000489512.2:p.Ser391=
ENST00000673864.2:c.1172_1173delinsCG	ENSP00000501045.2:p.Ser391=
ENST00000674147.2:c.1172_1173delinsCG	ENSP00000500964.2:p.Ser391=
ENST00000242839.10:c.1172_1173delinsCG MANE Select	ENSP00000242839.5:p.Ser391=
ENST00000344297.9:c.1172_1173delinsCG	ENSP00000342559.5:p.Ser391=
ENST00000400366.6:c.839_840delinsCG	ENSP00000383217.3:p.Ser280=
ENST00000448424.7:c.1172_1173delinsCG	ENSP00000416738.3:p.Ser391=
ENST00000673772.1:c.1172_1173delinsCG	ENSP00000501168.1:p.Ser391=
ENST00000673789.1:n.128_129delinsCG
ENST00000673864.1:c.128_129delinsCG	ENSP00000501045.1:p.Ser43=
ENST00000674078.1:n.1277_1278delinsCG
ENST00000674147.1:c.728_729delinsCG	ENSP00000500964.1:p.Ser243=
ENST00000242839.8:c.1172_1173delinsCG	ENSP00000242839.4:p.Ser391=
ENST00000344297.8:c.1172_1173delinsCG	ENSP00000342559.5:p.Ser391=
ENST00000400366.5:c.839_840delinsCG	ENSP00000383217.3:p.Ser280=
ENST00000400370.8:c.1172_1173delinsCG	ENSP00000383221.3:p.Ser391=
ENST00000418097.7:c.1172_1173delinsCG	ENSP00000393343.2:p.Ser391=
ENST00000448424.6:c.1172_1173delinsCG	ENSP00000416738.2:p.Ser391=
ENST00000482841.6:n.1293_1294delinsCG
ENST00000634308.1:c.1172_1173delinsCG	ENSP00000489234.1:p.Ser391=
ENST00000634844.1:c.1172_1173delinsCG	ENSP00000489398.1:p.Ser391=
ENST00000635406.1:n.212-27570_212-27569delinsCG
NM_000053.3:c.1172_1173delinsCG	NP_000044.2:p.Ser391=
NM_001005918.2:c.1172_1173delinsCG	NP_001005918.1:p.Ser391=
NM_001243182.1:c.839_840delinsCG	NP_001230111.1:p.Ser280=
XM_005266423.2:c.1076_1077delinsCG	XP_005266480.1:p.Ser359=
XM_005266424.3:c.1076_1077delinsCG	XP_005266481.1:p.Ser359=
XM_005266427.2:c.1172_1173delinsCG	XP_005266484.1:p.Ser391=
XM_005266428.1:c.1172_1173delinsCG	XP_005266485.1:p.Ser391=
XM_005266430.3:c.1172_1173delinsCG	XP_005266487.1:p.Ser391=
XM_005266431.2:c.1136_1137delinsCG	XP_005266488.1:p.Ser379=
XM_005266432.2:c.1172_1173delinsCG	XP_005266489.1:p.Ser391=
XM_006719837.2:c.1076_1077delinsCG	XP_006719900.1:p.Ser359=
XM_011535117.1:c.1076_1077delinsCG	XP_011533419.1:p.Ser359=
XM_011535118.1:c.1172_1173delinsCG	XP_011533420.1:p.Ser391=
XM_011535119.1:c.1172_1173delinsCG	XP_011533421.1:p.Ser391=
XM_011535120.1:c.1172_1173delinsCG	XP_011533422.1:p.Ser391=
XM_011535121.1:c.1172_1173delinsCG	XP_011533423.1:p.Ser391=
XR_941601.1:n.1391_1392delinsCG
XR_941602.1:n.1391_1392delinsCG
XR_941603.1:n.1391_1392delinsCG
XR_941604.1:n.1391_1392delinsCG
NM_001330578.1:c.1172_1173delinsCG	NP_001317507.1:p.Ser391=
NM_001330579.1:c.1172_1173delinsCG	NP_001317508.1:p.Ser391=
XM_005266424.4:c.1076_1077delinsCG	XP_005266481.1:p.Ser359=
XM_005266430.4:c.1172_1173delinsCG	XP_005266487.1:p.Ser391=
XM_005266431.4:c.1136_1137delinsCG	XP_005266488.1:p.Ser379=
XM_006719837.3:c.1076_1077delinsCG	XP_006719900.1:p.Ser359=
XM_011535117.3:c.1076_1077delinsCG	XP_011533419.1:p.Ser359=
XM_017020627.1:c.1076_1077delinsCG	XP_016876116.1:p.Ser359=
NM_000053.4:c.1172_1173delinsCG MANE Select	NP_000044.2:p.Ser391=
NM_001005918.3:c.1172_1173delinsCG	NP_001005918.1:p.Ser391=
NM_001330579.2:c.1172_1173delinsCG	NP_001317508.1:p.Ser391=
NM_001243182.2:c.839_840delinsCG	NP_001230111.1:p.Ser280=
NM_001330578.2:c.1172_1173delinsCG	NP_001317507.1:p.Ser391=