Canonical Allele Identifier: CA2091553470

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937348_51937349delinsTC , CM000675.2:g.51937348_51937349delinsTC	GRCh38
NC_000013.10:g.52511484_52511485delinsTC , CM000675.1:g.52511484_52511485delinsTC	GRCh37
NC_000013.9:g.51409485_51409486delinsTC	NCBI36
NG_008806.1:g.79146_79147delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1598_*1599delinsGA	ENSP00000489512.2:n.*1598_*1599delinsGA
ENST00000673864.2:c.*2692_*2693delinsGA	ENSP00000501045.2:n.*2692_*2693delinsGA
ENST00000674147.2:c.3327_3328delinsGA	ENSP00000500964.2:p.Arg1109=
ENST00000242839.10:c.3948_3949delinsGA MANE Select	ENSP00000242839.5:p.Arg1316=
ENST00000344297.9:c.3327_3328delinsGA	ENSP00000342559.5:p.Arg1109=
ENST00000400366.6:c.3615_3616delinsGA	ENSP00000383217.3:p.Arg1205=
ENST00000448424.7:c.3696_3697delinsGA	ENSP00000416738.3:p.Arg1232=
ENST00000673696.1:n.1271_1272delinsGA
ENST00000673772.1:c.3714_3715delinsGA	ENSP00000501168.1:p.Arg1238=
ENST00000673867.1:n.4087_4088delinsGA
ENST00000673923.1:n.814_815delinsGA
ENST00000674147.1:c.2883_2884delinsGA	ENSP00000500964.1:p.Arg961=
ENST00000242839.8:c.3948_3949delinsGA	ENSP00000242839.4:p.Arg1316=
ENST00000344297.8:c.3327_3328delinsGA	ENSP00000342559.5:p.Arg1109=
ENST00000400366.5:c.3615_3616delinsGA	ENSP00000383217.3:p.Arg1205=
ENST00000400370.8:c.2658_2659delinsGA	ENSP00000383221.3:p.Arg886=
ENST00000418097.7:c.3753_3754delinsGA	ENSP00000393343.2:p.Arg1251=
ENST00000448424.6:c.3714_3715delinsGA	ENSP00000416738.2:p.Arg1238=
ENST00000634296.1:c.1726_1727delinsGA
ENST00000634308.1:c.*1049_*1050delinsGA	ENSP00000489234.1:n.*1049_*1050delinsGA
ENST00000634620.1:n.4692_4693delinsGA
ENST00000634810.1:n.3293_3294delinsGA
ENST00000634844.1:c.3804_3805delinsGA	ENSP00000489398.1:p.Arg1268=
NM_000053.3:c.3948_3949delinsGA	NP_000044.2:p.Arg1316=
NM_001005918.2:c.3327_3328delinsGA	NP_001005918.1:p.Arg1109=
NM_001243182.1:c.3615_3616delinsGA	NP_001230111.1:p.Arg1205=
XM_005266423.2:c.3852_3853delinsGA	XP_005266480.1:p.Arg1284=
XM_005266424.3:c.3852_3853delinsGA	XP_005266481.1:p.Arg1284=
XM_005266427.2:c.3714_3715delinsGA	XP_005266484.1:p.Arg1238=
XM_005266428.1:c.3696_3697delinsGA	XP_005266485.1:p.Arg1232=
XM_005266430.3:c.3948_3949delinsGA	XP_005266487.1:p.Arg1316=
XM_005266431.2:c.3912_3913delinsGA	XP_005266488.1:p.Arg1304=
XM_005266432.2:c.3462_3463delinsGA	XP_005266489.1:p.Arg1154=
XM_006719837.2:c.3852_3853delinsGA	XP_006719900.1:p.Arg1284=
XM_006719838.1:c.1764_1765delinsGA	XP_006719901.1:p.Arg588=
XM_006719839.1:c.1581_1582delinsGA	XP_006719902.1:p.Arg527=
XM_011535117.1:c.3852_3853delinsGA	XP_011533419.1:p.Arg1284=
XM_011535118.1:c.3813_3814delinsGA	XP_011533420.1:p.Arg1271=
XM_011535119.1:c.3765_3766delinsGA	XP_011533421.1:p.Arg1255=
XM_011535120.1:c.3534_3535delinsGA	XP_011533422.1:p.Arg1178=
XM_011535121.1:c.3435_3436delinsGA	XP_011533423.1:p.Arg1145=
XM_011535122.1:c.2616_2617delinsGA	XP_011533424.1:p.Arg872=
XR_941601.1:n.4167_4168delinsGA
XR_941602.1:n.4167_4168delinsGA
XR_941603.1:n.4167_4168delinsGA
XR_941604.1:n.4167_4168delinsGA
NM_001330578.1:c.3714_3715delinsGA	NP_001317507.1:p.Arg1238=
NM_001330579.1:c.3696_3697delinsGA	NP_001317508.1:p.Arg1232=
XM_005266424.4:c.3852_3853delinsGA	XP_005266481.1:p.Arg1284=
XM_005266430.4:c.3948_3949delinsGA	XP_005266487.1:p.Arg1316=
XM_005266431.4:c.3912_3913delinsGA	XP_005266488.1:p.Arg1304=
XM_006719837.3:c.3852_3853delinsGA	XP_006719900.1:p.Arg1284=
XM_011535117.3:c.3852_3853delinsGA	XP_011533419.1:p.Arg1284=
XM_017020627.1:c.3852_3853delinsGA	XP_016876116.1:p.Arg1284=
NM_000053.4:c.3948_3949delinsGA MANE Select	NP_000044.2:p.Arg1316=
NM_001005918.3:c.3327_3328delinsGA	NP_001005918.1:p.Arg1109=
NM_001330579.2:c.3696_3697delinsGA	NP_001317508.1:p.Arg1232=
NM_001243182.2:c.3615_3616delinsGA	NP_001230111.1:p.Arg1205=
NM_001330578.2:c.3714_3715delinsGA	NP_001317507.1:p.Arg1238=