Canonical Allele Identifier: CA2091553672

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937483_51937484delinsAG , CM000675.2:g.51937483_51937484delinsAG	GRCh38
NC_000013.10:g.52511619_52511620delinsAG , CM000675.1:g.52511619_52511620delinsAG	GRCh37
NC_000013.9:g.51409620_51409621delinsAG	NCBI36
NG_008806.1:g.79011_79012delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1545_*1546delinsCT	ENSP00000489512.2:n.*1545_*1546delinsCT
ENST00000673864.2:c.*2639_*2640delinsCT	ENSP00000501045.2:n.*2639_*2640delinsCT
ENST00000674147.2:c.3274_3275delinsCT	ENSP00000500964.2:p.Leu1092=
ENST00000242839.10:c.3895_3896delinsCT MANE Select	ENSP00000242839.5:p.Leu1299=
ENST00000344297.9:c.3274_3275delinsCT	ENSP00000342559.5:p.Leu1092=
ENST00000400366.6:c.3562_3563delinsCT	ENSP00000383217.3:p.Leu1188=
ENST00000448424.7:c.3643_3644delinsCT	ENSP00000416738.3:p.Leu1215=
ENST00000673696.1:n.1136_1137delinsCT
ENST00000673772.1:c.3661_3662delinsCT	ENSP00000501168.1:p.Leu1221=
ENST00000673867.1:n.4034_4035delinsCT
ENST00000673923.1:n.761_762delinsCT
ENST00000674147.1:c.2830_2831delinsCT	ENSP00000500964.1:p.Leu944=
ENST00000242839.8:c.3895_3896delinsCT	ENSP00000242839.4:p.Leu1299=
ENST00000344297.8:c.3274_3275delinsCT	ENSP00000342559.5:p.Leu1092=
ENST00000400366.5:c.3562_3563delinsCT	ENSP00000383217.3:p.Leu1188=
ENST00000400370.8:c.2605_2606delinsCT	ENSP00000383221.3:p.Leu869=
ENST00000418097.7:c.3700_3701delinsCT	ENSP00000393343.2:p.Leu1234=
ENST00000448424.6:c.3661_3662delinsCT	ENSP00000416738.2:p.Leu1221=
ENST00000634296.1:c.1673_1674delinsCT
ENST00000634308.1:c.*996_*997delinsCT	ENSP00000489234.1:n.*996_*997delinsCT
ENST00000634620.1:n.4639_4640delinsCT
ENST00000634810.1:n.3240_3241delinsCT
ENST00000634844.1:c.3751_3752delinsCT	ENSP00000489398.1:p.Leu1251=
NM_000053.3:c.3895_3896delinsCT	NP_000044.2:p.Leu1299=
NM_001005918.2:c.3274_3275delinsCT	NP_001005918.1:p.Leu1092=
NM_001243182.1:c.3562_3563delinsCT	NP_001230111.1:p.Leu1188=
XM_005266423.2:c.3799_3800delinsCT	XP_005266480.1:p.Leu1267=
XM_005266424.3:c.3799_3800delinsCT	XP_005266481.1:p.Leu1267=
XM_005266427.2:c.3661_3662delinsCT	XP_005266484.1:p.Leu1221=
XM_005266428.1:c.3643_3644delinsCT	XP_005266485.1:p.Leu1215=
XM_005266430.3:c.3895_3896delinsCT	XP_005266487.1:p.Leu1299=
XM_005266431.2:c.3859_3860delinsCT	XP_005266488.1:p.Leu1287=
XM_005266432.2:c.3409_3410delinsCT	XP_005266489.1:p.Leu1137=
XM_006719837.2:c.3799_3800delinsCT	XP_006719900.1:p.Leu1267=
XM_006719838.1:c.1711_1712delinsCT	XP_006719901.1:p.Leu571=
XM_006719839.1:c.1528_1529delinsCT	XP_006719902.1:p.Leu510=
XM_011535117.1:c.3799_3800delinsCT	XP_011533419.1:p.Leu1267=
XM_011535118.1:c.3760_3761delinsCT	XP_011533420.1:p.Leu1254=
XM_011535119.1:c.3712_3713delinsCT	XP_011533421.1:p.Leu1238=
XM_011535120.1:c.3481_3482delinsCT	XP_011533422.1:p.Leu1161=
XM_011535121.1:c.3382_3383delinsCT	XP_011533423.1:p.Leu1128=
XM_011535122.1:c.2563_2564delinsCT	XP_011533424.1:p.Leu855=
XR_941601.1:n.4114_4115delinsCT
XR_941602.1:n.4114_4115delinsCT
XR_941603.1:n.4114_4115delinsCT
XR_941604.1:n.4114_4115delinsCT
NM_001330578.1:c.3661_3662delinsCT	NP_001317507.1:p.Leu1221=
NM_001330579.1:c.3643_3644delinsCT	NP_001317508.1:p.Leu1215=
XM_005266424.4:c.3799_3800delinsCT	XP_005266481.1:p.Leu1267=
XM_005266430.4:c.3895_3896delinsCT	XP_005266487.1:p.Leu1299=
XM_005266431.4:c.3859_3860delinsCT	XP_005266488.1:p.Leu1287=
XM_006719837.3:c.3799_3800delinsCT	XP_006719900.1:p.Leu1267=
XM_011535117.3:c.3799_3800delinsCT	XP_011533419.1:p.Leu1267=
XM_017020627.1:c.3799_3800delinsCT	XP_016876116.1:p.Leu1267=
NM_000053.4:c.3895_3896delinsCT MANE Select	NP_000044.2:p.Leu1299=
NM_001005918.3:c.3274_3275delinsCT	NP_001005918.1:p.Leu1092=
NM_001330579.2:c.3643_3644delinsCT	NP_001317508.1:p.Leu1215=
NM_001243182.2:c.3562_3563delinsCT	NP_001230111.1:p.Leu1188=
NM_001330578.2:c.3661_3662delinsCT	NP_001317507.1:p.Leu1221=