Canonical Allele Identifier: CA2091559475

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941154_51941165delinsAATGGTTAAACC , CM000675.2:g.51941154_51941165delinsAATGGTTAAACC	GRCh38
NC_000013.10:g.52515290_52515301delinsAATGGTTAAACC , CM000675.1:g.52515290_52515301delinsAATGGTTAAACC	GRCh37
NC_000013.9:g.51413291_51413302delinsAATGGTTAAACC	NCBI36
NG_008806.1:g.75330_75341delinsGGTTTAACCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1122_*1133delinsGGTTTAACCATT	ENSP00000489512.2:n.*1122_*1133delinsGGTTTAACCATT
ENST00000673864.2:c.*2216_*2227delinsGGTTTAACCATT	ENSP00000501045.2:n.*2216_*2227delinsGGTTTAACCATT
ENST00000674147.2:c.2851_2862delinsGGTTTAACCATT	ENSP00000500964.2:p.Gly951=
ENST00000242839.10:c.3472_3483delinsGGTTTAACCATT MANE Select	ENSP00000242839.5:p.Gly1158=
ENST00000344297.9:c.2851_2862delinsGGTTTAACCATT	ENSP00000342559.5:p.Gly951=
ENST00000400366.6:c.3139_3150delinsGGTTTAACCATT	ENSP00000383217.3:p.Gly1047=
ENST00000448424.7:c.3220_3231delinsGGTTTAACCATT	ENSP00000416738.3:p.Gly1074=
ENST00000673772.1:c.3238_3249delinsGGTTTAACCATT	ENSP00000501168.1:p.Gly1080=
ENST00000673867.1:n.3611_3622delinsGGTTTAACCATT
ENST00000674126.1:n.3835_3846delinsGGTTTAACCATT
ENST00000674147.1:c.2407_2418delinsGGTTTAACCATT	ENSP00000500964.1:p.Gly803=
ENST00000242839.8:c.3472_3483delinsGGTTTAACCATT	ENSP00000242839.4:p.Gly1158=
ENST00000344297.8:c.2851_2862delinsGGTTTAACCATT	ENSP00000342559.5:p.Gly951=
ENST00000400366.5:c.3139_3150delinsGGTTTAACCATT	ENSP00000383217.3:p.Gly1047=
ENST00000400370.8:c.2182_2193delinsGGTTTAACCATT	ENSP00000383221.3:p.Gly728=
ENST00000418097.7:c.3277_3288delinsGGTTTAACCATT	ENSP00000393343.2:p.Gly1093=
ENST00000448424.6:c.3238_3249delinsGGTTTAACCATT	ENSP00000416738.2:p.Gly1080=
ENST00000634296.1:c.1250_1261delinsGGTTTAACCATT
ENST00000634308.1:c.*573_*584delinsGGTTTAACCATT	ENSP00000489234.1:n.*573_*584delinsGGTTTAACCATT
ENST00000634620.1:n.4216_4227delinsGGTTTAACCATT
ENST00000634810.1:n.2817_2828delinsGGTTTAACCATT
ENST00000634844.1:c.3328_3339delinsGGTTTAACCATT	ENSP00000489398.1:p.Gly1110=
NM_000053.3:c.3472_3483delinsGGTTTAACCATT	NP_000044.2:p.Gly1158=
NM_001005918.2:c.2851_2862delinsGGTTTAACCATT	NP_001005918.1:p.Gly951=
NM_001243182.1:c.3139_3150delinsGGTTTAACCATT	NP_001230111.1:p.Gly1047=
XM_005266423.2:c.3376_3387delinsGGTTTAACCATT	XP_005266480.1:p.Gly1126=
XM_005266424.3:c.3376_3387delinsGGTTTAACCATT	XP_005266481.1:p.Gly1126=
XM_005266427.2:c.3238_3249delinsGGTTTAACCATT	XP_005266484.1:p.Gly1080=
XM_005266428.1:c.3220_3231delinsGGTTTAACCATT	XP_005266485.1:p.Gly1074=
XM_005266430.3:c.3472_3483delinsGGTTTAACCATT	XP_005266487.1:p.Gly1158=
XM_005266431.2:c.3436_3447delinsGGTTTAACCATT	XP_005266488.1:p.Gly1146=
XM_005266432.2:c.2986_2997delinsGGTTTAACCATT	XP_005266489.1:p.Gly996=
XM_006719837.2:c.3376_3387delinsGGTTTAACCATT	XP_006719900.1:p.Gly1126=
XM_006719838.1:c.1288_1299delinsGGTTTAACCATT	XP_006719901.1:p.Gly430=
XM_006719839.1:c.1105_1116delinsGGTTTAACCATT	XP_006719902.1:p.Gly369=
XM_011535117.1:c.3376_3387delinsGGTTTAACCATT	XP_011533419.1:p.Gly1126=
XM_011535118.1:c.3337_3348delinsGGTTTAACCATT	XP_011533420.1:p.Gly1113=
XM_011535119.1:c.3289_3300delinsGGTTTAACCATT	XP_011533421.1:p.Gly1097=
XM_011535120.1:c.3058_3069delinsGGTTTAACCATT	XP_011533422.1:p.Gly1020=
XM_011535121.1:c.2959_2970delinsGGTTTAACCATT	XP_011533423.1:p.Gly987=
XM_011535122.1:c.2140_2151delinsGGTTTAACCATT	XP_011533424.1:p.Gly714=
XR_941601.1:n.3691_3702delinsGGTTTAACCATT
XR_941602.1:n.3691_3702delinsGGTTTAACCATT
XR_941603.1:n.3691_3702delinsGGTTTAACCATT
XR_941604.1:n.3691_3702delinsGGTTTAACCATT
NM_001330578.1:c.3238_3249delinsGGTTTAACCATT	NP_001317507.1:p.Gly1080=
NM_001330579.1:c.3220_3231delinsGGTTTAACCATT	NP_001317508.1:p.Gly1074=
XM_005266424.4:c.3376_3387delinsGGTTTAACCATT	XP_005266481.1:p.Gly1126=
XM_005266430.4:c.3472_3483delinsGGTTTAACCATT	XP_005266487.1:p.Gly1158=
XM_005266431.4:c.3436_3447delinsGGTTTAACCATT	XP_005266488.1:p.Gly1146=
XM_006719837.3:c.3376_3387delinsGGTTTAACCATT	XP_006719900.1:p.Gly1126=
XM_011535117.3:c.3376_3387delinsGGTTTAACCATT	XP_011533419.1:p.Gly1126=
XM_017020627.1:c.3376_3387delinsGGTTTAACCATT	XP_016876116.1:p.Gly1126=
NM_000053.4:c.3472_3483delinsGGTTTAACCATT MANE Select	NP_000044.2:p.Gly1158=
NM_001005918.3:c.2851_2862delinsGGTTTAACCATT	NP_001005918.1:p.Gly951=
NM_001330579.2:c.3220_3231delinsGGTTTAACCATT	NP_001317508.1:p.Gly1074=
NM_001243182.2:c.3139_3150delinsGGTTTAACCATT	NP_001230111.1:p.Gly1047=
NM_001330578.2:c.3238_3249delinsGGTTTAACCATT	NP_001317507.1:p.Gly1080=