Canonical Allele Identifier: CA2091559408

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941127_51941128delinsTG , CM000675.2:g.51941127_51941128delinsTG	GRCh38
NC_000013.10:g.52515263_52515264delinsTG , CM000675.1:g.52515263_52515264delinsTG	GRCh37
NC_000013.9:g.51413264_51413265delinsTG	NCBI36
NG_008806.1:g.75367_75368delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1159_*1160delinsCA	ENSP00000489512.2:n.*1159_*1160delinsCA
ENST00000673864.2:c.*2253_*2254delinsCA	ENSP00000501045.2:n.*2253_*2254delinsCA
ENST00000674147.2:c.2888_2889delinsCA	ENSP00000500964.2:p.Thr963=
ENST00000242839.10:c.3509_3510delinsCA MANE Select	ENSP00000242839.5:p.Thr1170=
ENST00000344297.9:c.2888_2889delinsCA	ENSP00000342559.5:p.Thr963=
ENST00000400366.6:c.3176_3177delinsCA	ENSP00000383217.3:p.Thr1059=
ENST00000448424.7:c.3257_3258delinsCA	ENSP00000416738.3:p.Thr1086=
ENST00000673772.1:c.3275_3276delinsCA	ENSP00000501168.1:p.Thr1092=
ENST00000673867.1:n.3648_3649delinsCA
ENST00000674126.1:n.3872_3873delinsCA
ENST00000674147.1:c.2444_2445delinsCA	ENSP00000500964.1:p.Thr815=
ENST00000242839.8:c.3509_3510delinsCA	ENSP00000242839.4:p.Thr1170=
ENST00000344297.8:c.2888_2889delinsCA	ENSP00000342559.5:p.Thr963=
ENST00000400366.5:c.3176_3177delinsCA	ENSP00000383217.3:p.Thr1059=
ENST00000400370.8:c.2219_2220delinsCA	ENSP00000383221.3:p.Thr740=
ENST00000418097.7:c.3314_3315delinsCA	ENSP00000393343.2:p.Thr1105=
ENST00000448424.6:c.3275_3276delinsCA	ENSP00000416738.2:p.Thr1092=
ENST00000634296.1:c.1287_1288delinsCA
ENST00000634308.1:c.*610_*611delinsCA	ENSP00000489234.1:n.*610_*611delinsCA
ENST00000634620.1:n.4253_4254delinsCA
ENST00000634810.1:n.2854_2855delinsCA
ENST00000634844.1:c.3365_3366delinsCA	ENSP00000489398.1:p.Thr1122=
NM_000053.3:c.3509_3510delinsCA	NP_000044.2:p.Thr1170=
NM_001005918.2:c.2888_2889delinsCA	NP_001005918.1:p.Thr963=
NM_001243182.1:c.3176_3177delinsCA	NP_001230111.1:p.Thr1059=
XM_005266423.2:c.3413_3414delinsCA	XP_005266480.1:p.Thr1138=
XM_005266424.3:c.3413_3414delinsCA	XP_005266481.1:p.Thr1138=
XM_005266427.2:c.3275_3276delinsCA	XP_005266484.1:p.Thr1092=
XM_005266428.1:c.3257_3258delinsCA	XP_005266485.1:p.Thr1086=
XM_005266430.3:c.3509_3510delinsCA	XP_005266487.1:p.Thr1170=
XM_005266431.2:c.3473_3474delinsCA	XP_005266488.1:p.Thr1158=
XM_005266432.2:c.3023_3024delinsCA	XP_005266489.1:p.Thr1008=
XM_006719837.2:c.3413_3414delinsCA	XP_006719900.1:p.Thr1138=
XM_006719838.1:c.1325_1326delinsCA	XP_006719901.1:p.Thr442=
XM_006719839.1:c.1142_1143delinsCA	XP_006719902.1:p.Thr381=
XM_011535117.1:c.3413_3414delinsCA	XP_011533419.1:p.Thr1138=
XM_011535118.1:c.3374_3375delinsCA	XP_011533420.1:p.Thr1125=
XM_011535119.1:c.3326_3327delinsCA	XP_011533421.1:p.Thr1109=
XM_011535120.1:c.3095_3096delinsCA	XP_011533422.1:p.Thr1032=
XM_011535121.1:c.2996_2997delinsCA	XP_011533423.1:p.Thr999=
XM_011535122.1:c.2177_2178delinsCA	XP_011533424.1:p.Thr726=
XR_941601.1:n.3728_3729delinsCA
XR_941602.1:n.3728_3729delinsCA
XR_941603.1:n.3728_3729delinsCA
XR_941604.1:n.3728_3729delinsCA
NM_001330578.1:c.3275_3276delinsCA	NP_001317507.1:p.Thr1092=
NM_001330579.1:c.3257_3258delinsCA	NP_001317508.1:p.Thr1086=
XM_005266424.4:c.3413_3414delinsCA	XP_005266481.1:p.Thr1138=
XM_005266430.4:c.3509_3510delinsCA	XP_005266487.1:p.Thr1170=
XM_005266431.4:c.3473_3474delinsCA	XP_005266488.1:p.Thr1158=
XM_006719837.3:c.3413_3414delinsCA	XP_006719900.1:p.Thr1138=
XM_011535117.3:c.3413_3414delinsCA	XP_011533419.1:p.Thr1138=
XM_017020627.1:c.3413_3414delinsCA	XP_016876116.1:p.Thr1138=
NM_000053.4:c.3509_3510delinsCA MANE Select	NP_000044.2:p.Thr1170=
NM_001005918.3:c.2888_2889delinsCA	NP_001005918.1:p.Thr963=
NM_001330579.2:c.3257_3258delinsCA	NP_001317508.1:p.Thr1086=
NM_001243182.2:c.3176_3177delinsCA	NP_001230111.1:p.Thr1059=
NM_001330578.2:c.3275_3276delinsCA	NP_001317507.1:p.Thr1092=