Canonical Allele Identifier: CA2091566210

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946442_51946443delinsTG , CM000675.2:g.51946442_51946443delinsTG	GRCh38
NC_000013.10:g.52520578_52520579delinsTG , CM000675.1:g.52520578_52520579delinsTG	GRCh37
NC_000013.9:g.51418579_51418580delinsTG	NCBI36
NG_008806.1:g.70052_70053delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*734_*735delinsCA	ENSP00000489512.2:n.*734_*735delinsCA
ENST00000673864.2:c.*1645_*1646delinsCA	ENSP00000501045.2:n.*1645_*1646delinsCA
ENST00000674147.2:c.2280_2281delinsCA	ENSP00000500964.2:p.Ile760=
ENST00000242839.10:c.2901_2902delinsCA MANE Select	ENSP00000242839.5:p.Ile967=
ENST00000344297.9:c.2280_2281delinsCA	ENSP00000342559.5:p.Ile760=
ENST00000400366.6:c.2568_2569delinsCA	ENSP00000383217.3:p.Ile856=
ENST00000448424.7:c.2649_2650delinsCA	ENSP00000416738.3:p.Ile883=
ENST00000673772.1:c.2667_2668delinsCA	ENSP00000501168.1:p.Ile889=
ENST00000673867.1:n.1048_1049delinsCA
ENST00000674126.1:n.3264_3265delinsCA
ENST00000674147.1:c.1836_1837delinsCA	ENSP00000500964.1:p.Ile612=
ENST00000242839.8:c.2901_2902delinsCA	ENSP00000242839.4:p.Ile967=
ENST00000344297.8:c.2280_2281delinsCA	ENSP00000342559.5:p.Ile760=
ENST00000400366.5:c.2568_2569delinsCA	ENSP00000383217.3:p.Ile856=
ENST00000400370.8:c.1611_1612delinsCA	ENSP00000383221.3:p.Ile537=
ENST00000418097.7:c.2866-2152_2866-2151delinsCA	ENSP00000393343.2:n.2866-2152_2866-2151de...
ENST00000448424.6:c.2667_2668delinsCA	ENSP00000416738.2:p.Ile889=
ENST00000466629.1:n.121_122delinsCA
ENST00000634296.1:c.862_863delinsCA
ENST00000634308.1:c.*2_*3delinsCA	ENSP00000489234.1:n.*2_*3delinsCA
ENST00000634620.1:n.3645_3646delinsCA
ENST00000634810.1:n.2246_2247delinsCA
ENST00000634844.1:c.2757_2758delinsCA	ENSP00000489398.1:p.Ile919=
ENST00000635406.1:n.247_248delinsCA
NM_000053.3:c.2901_2902delinsCA	NP_000044.2:p.Ile967=
NM_001005918.2:c.2280_2281delinsCA	NP_001005918.1:p.Ile760=
NM_001243182.1:c.2568_2569delinsCA	NP_001230111.1:p.Ile856=
XM_005266423.2:c.2805_2806delinsCA	XP_005266480.1:p.Ile935=
XM_005266424.3:c.2805_2806delinsCA	XP_005266481.1:p.Ile935=
XM_005266427.2:c.2667_2668delinsCA	XP_005266484.1:p.Ile889=
XM_005266428.1:c.2649_2650delinsCA	XP_005266485.1:p.Ile883=
XM_005266430.3:c.2901_2902delinsCA	XP_005266487.1:p.Ile967=
XM_005266431.2:c.2865_2866delinsCA	XP_005266488.1:p.Ile955=
XM_005266432.2:c.2415_2416delinsCA	XP_005266489.1:p.Ile805=
XM_006719837.2:c.2805_2806delinsCA	XP_006719900.1:p.Ile935=
XM_006719838.1:c.717_718delinsCA	XP_006719901.1:p.Ile239=
XM_006719839.1:c.717_718delinsCA	XP_006719902.1:p.Ile239=
XM_011535117.1:c.2805_2806delinsCA	XP_011533419.1:p.Ile935=
XM_011535118.1:c.2766_2767delinsCA	XP_011533420.1:p.Ile922=
XM_011535119.1:c.2901_2902delinsCA	XP_011533421.1:p.Ile967=
XM_011535120.1:c.2487_2488delinsCA	XP_011533422.1:p.Ile829=
XM_011535121.1:c.2730+3564_2730+3565delinsCA	XP_011533423.1:n.2730+3564_2730+3565delin...
XM_011535122.1:c.1569_1570delinsCA	XP_011533424.1:p.Ile523=
XR_941601.1:n.3120_3121delinsCA
XR_941602.1:n.3120_3121delinsCA
XR_941603.1:n.3120_3121delinsCA
XR_941604.1:n.3120_3121delinsCA
NM_001330578.1:c.2667_2668delinsCA	NP_001317507.1:p.Ile889=
NM_001330579.1:c.2649_2650delinsCA	NP_001317508.1:p.Ile883=
XM_005266424.4:c.2805_2806delinsCA	XP_005266481.1:p.Ile935=
XM_005266430.4:c.2901_2902delinsCA	XP_005266487.1:p.Ile967=
XM_005266431.4:c.2865_2866delinsCA	XP_005266488.1:p.Ile955=
XM_006719837.3:c.2805_2806delinsCA	XP_006719900.1:p.Ile935=
XM_011535117.3:c.2805_2806delinsCA	XP_011533419.1:p.Ile935=
XM_017020627.1:c.2805_2806delinsCA	XP_016876116.1:p.Ile935=
NM_000053.4:c.2901_2902delinsCA MANE Select	NP_000044.2:p.Ile967=
NM_001005918.3:c.2280_2281delinsCA	NP_001005918.1:p.Ile760=
NM_001330579.2:c.2649_2650delinsCA	NP_001317508.1:p.Ile883=
NM_001243182.2:c.2568_2569delinsCA	NP_001230111.1:p.Ile856=
NM_001330578.2:c.2667_2668delinsCA	NP_001317507.1:p.Ile889=