Canonical Allele Identifier: CA2091560050
Gene: ATP7B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51941532_51941533delinsCA , CM000675.2:g.51941532_51941533delinsCA GRCh38
NC_000013.10:g.52515668_52515669delinsCA , CM000675.1:g.52515668_52515669delinsCA GRCh37
NC_000013.9:g.51413669_51413670delinsCA NCBI36
NG_008806.1:g.74962_74963delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*1063-309_*1063-308delinsTG ENSP00000489512.2:n.*1063-309_*1063-308delinsTG
ENST00000673864.2:c.*2157-309_*2157-308delinsTG ENSP00000501045.2:n.*2157-309_*2157-308delinsTG
ENST00000674147.2:c.2792-309_2792-308delinsTG ENSP00000500964.2:n.2792-309_2792-308delinsTG
ENST00000242839.10:c.3413-309_3413-308delinsTG MANE Select ENSP00000242839.5:n.3413-309_3413-308delinsTG
ENST00000344297.9:c.2792-309_2792-308delinsTG ENSP00000342559.5:n.2792-309_2792-308delinsTG
ENST00000400366.6:c.3080-309_3080-308delinsTG ENSP00000383217.3:n.3080-309_3080-308delinsTG
ENST00000448424.7:c.3161-309_3161-308delinsTG ENSP00000416738.3:n.3161-309_3161-308delinsTG
ENST00000673772.1:c.3179-309_3179-308delinsTG ENSP00000501168.1:n.3179-309_3179-308delinsTG
ENST00000673867.1:n.3552-309_3552-308delinsTG
ENST00000674126.1:n.3776-309_3776-308delinsTG
ENST00000674147.1:c.2348-309_2348-308delinsTG ENSP00000500964.1:n.2348-309_2348-308delinsTG
ENST00000242839.8:c.3413-309_3413-308delinsTG ENSP00000242839.4:n.3413-309_3413-308delinsTG
ENST00000344297.8:c.2792-309_2792-308delinsTG ENSP00000342559.5:n.2792-309_2792-308delinsTG
ENST00000400366.5:c.3080-309_3080-308delinsTG ENSP00000383217.3:n.3080-309_3080-308delinsTG
ENST00000400370.8:c.2123-309_2123-308delinsTG ENSP00000383221.3:n.2123-309_2123-308delinsTG
ENST00000418097.7:c.3218-309_3218-308delinsTG ENSP00000393343.2:n.3218-309_3218-308delinsTG
ENST00000448424.6:c.3179-309_3179-308delinsTG ENSP00000416738.2:n.3179-309_3179-308delinsTG
ENST00000634296.1:c.1191-309_1191-308delinsTG
ENST00000634308.1:c.*514-309_*514-308delinsTG ENSP00000489234.1:n.*514-309_*514-308delinsTG
ENST00000634620.1:n.4157-309_4157-308delinsTG
ENST00000634810.1:n.2758-309_2758-308delinsTG
ENST00000634844.1:c.3269-309_3269-308delinsTG ENSP00000489398.1:n.3269-309_3269-308delinsTG
NM_000053.3:c.3413-309_3413-308delinsTG NP_000044.2:n.3413-309_3413-308delinsTG
NM_001005918.2:c.2792-309_2792-308delinsTG NP_001005918.1:n.2792-309_2792-308delinsTG
NM_001243182.1:c.3080-309_3080-308delinsTG NP_001230111.1:n.3080-309_3080-308delinsTG
XM_005266423.2:c.3317-309_3317-308delinsTG XP_005266480.1:n.3317-309_3317-308delinsTG
XM_005266424.3:c.3317-309_3317-308delinsTG XP_005266481.1:n.3317-309_3317-308delinsTG
XM_005266427.2:c.3179-309_3179-308delinsTG XP_005266484.1:n.3179-309_3179-308delinsTG
XM_005266428.1:c.3161-309_3161-308delinsTG XP_005266485.1:n.3161-309_3161-308delinsTG
XM_005266430.3:c.3413-309_3413-308delinsTG XP_005266487.1:n.3413-309_3413-308delinsTG
XM_005266431.2:c.3377-309_3377-308delinsTG XP_005266488.1:n.3377-309_3377-308delinsTG
XM_005266432.2:c.2927-309_2927-308delinsTG XP_005266489.1:n.2927-309_2927-308delinsTG
XM_006719837.2:c.3317-309_3317-308delinsTG XP_006719900.1:n.3317-309_3317-308delinsTG
XM_006719838.1:c.1229-309_1229-308delinsTG XP_006719901.1:n.1229-309_1229-308delinsTG
XM_006719839.1:c.1046-309_1046-308delinsTG XP_006719902.1:n.1046-309_1046-308delinsTG
XM_011535117.1:c.3317-309_3317-308delinsTG XP_011533419.1:n.3317-309_3317-308delinsTG
XM_011535118.1:c.3278-309_3278-308delinsTG XP_011533420.1:n.3278-309_3278-308delinsTG
XM_011535119.1:c.3230-309_3230-308delinsTG XP_011533421.1:n.3230-309_3230-308delinsTG
XM_011535120.1:c.2999-309_2999-308delinsTG XP_011533422.1:n.2999-309_2999-308delinsTG
XM_011535121.1:c.2900-309_2900-308delinsTG XP_011533423.1:n.2900-309_2900-308delinsTG
XM_011535122.1:c.2081-309_2081-308delinsTG XP_011533424.1:n.2081-309_2081-308delinsTG
XR_941601.1:n.3632-309_3632-308delinsTG
XR_941602.1:n.3632-309_3632-308delinsTG
XR_941603.1:n.3632-309_3632-308delinsTG
XR_941604.1:n.3632-309_3632-308delinsTG
NM_001330578.1:c.3179-309_3179-308delinsTG NP_001317507.1:n.3179-309_3179-308delinsTG
NM_001330579.1:c.3161-309_3161-308delinsTG NP_001317508.1:n.3161-309_3161-308delinsTG
XM_005266424.4:c.3317-309_3317-308delinsTG XP_005266481.1:n.3317-309_3317-308delinsTG
XM_005266430.4:c.3413-309_3413-308delinsTG XP_005266487.1:n.3413-309_3413-308delinsTG
XM_005266431.4:c.3377-309_3377-308delinsTG XP_005266488.1:n.3377-309_3377-308delinsTG
XM_006719837.3:c.3317-309_3317-308delinsTG XP_006719900.1:n.3317-309_3317-308delinsTG
XM_011535117.3:c.3317-309_3317-308delinsTG XP_011533419.1:n.3317-309_3317-308delinsTG
XM_017020627.1:c.3317-309_3317-308delinsTG XP_016876116.1:n.3317-309_3317-308delinsTG
NM_000053.4:c.3413-309_3413-308delinsTG MANE Select NP_000044.2:n.3413-309_3413-308delinsTG
NM_001005918.3:c.2792-309_2792-308delinsTG NP_001005918.1:n.2792-309_2792-308delinsTG
NM_001330579.2:c.3161-309_3161-308delinsTG NP_001317508.1:n.3161-309_3161-308delinsTG
NM_001243182.2:c.3080-309_3080-308delinsTG NP_001230111.1:n.3080-309_3080-308delinsTG
NM_001330578.2:c.3179-309_3179-308delinsTG NP_001317507.1:n.3179-309_3179-308delinsTG
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