Canonical Allele Identifier: CA2091559654
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51941236_51941237delinsAG , CM000675.2:g.51941236_51941237delinsAG GRCh38
NC_000013.10:g.52515372_52515373delinsAG , CM000675.1:g.52515372_52515373delinsAG GRCh37
NC_000013.9:g.51413373_51413374delinsAG NCBI36
NG_008806.1:g.75258_75259delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*1063-13_*1063-12delinsCT ENSP00000489512.2:n.*1063-13_*1063-12delinsCT
ENST00000673864.2:c.*2157-13_*2157-12delinsCT ENSP00000501045.2:n.*2157-13_*2157-12delinsCT
ENST00000674147.2:c.2792-13_2792-12delinsCT ENSP00000500964.2:n.2792-13_2792-12delinsCT
ENST00000242839.10:c.3413-13_3413-12delinsCT MANE Select ENSP00000242839.5:n.3413-13_3413-12delinsCT
ENST00000344297.9:c.2792-13_2792-12delinsCT ENSP00000342559.5:n.2792-13_2792-12delinsCT
ENST00000400366.6:c.3080-13_3080-12delinsCT ENSP00000383217.3:n.3080-13_3080-12delinsCT
ENST00000448424.7:c.3161-13_3161-12delinsCT ENSP00000416738.3:n.3161-13_3161-12delinsCT
ENST00000673772.1:c.3179-13_3179-12delinsCT ENSP00000501168.1:n.3179-13_3179-12delinsCT
ENST00000673867.1:n.3552-13_3552-12delinsCT
ENST00000674126.1:n.3776-13_3776-12delinsCT
ENST00000674147.1:c.2348-13_2348-12delinsCT ENSP00000500964.1:n.2348-13_2348-12delinsCT
ENST00000242839.8:c.3413-13_3413-12delinsCT ENSP00000242839.4:n.3413-13_3413-12delinsCT
ENST00000344297.8:c.2792-13_2792-12delinsCT ENSP00000342559.5:n.2792-13_2792-12delinsCT
ENST00000400366.5:c.3080-13_3080-12delinsCT ENSP00000383217.3:n.3080-13_3080-12delinsCT
ENST00000400370.8:c.2123-13_2123-12delinsCT ENSP00000383221.3:n.2123-13_2123-12delinsCT
ENST00000418097.7:c.3218-13_3218-12delinsCT ENSP00000393343.2:n.3218-13_3218-12delinsCT
ENST00000448424.6:c.3179-13_3179-12delinsCT ENSP00000416738.2:n.3179-13_3179-12delinsCT
ENST00000634296.1:c.1191-13_1191-12delinsCT
ENST00000634308.1:c.*514-13_*514-12delinsCT ENSP00000489234.1:n.*514-13_*514-12delinsCT
ENST00000634620.1:n.4157-13_4157-12delinsCT
ENST00000634810.1:n.2758-13_2758-12delinsCT
ENST00000634844.1:c.3269-13_3269-12delinsCT ENSP00000489398.1:n.3269-13_3269-12delinsCT
NM_000053.3:c.3413-13_3413-12delinsCT NP_000044.2:n.3413-13_3413-12delinsCT
NM_001005918.2:c.2792-13_2792-12delinsCT NP_001005918.1:n.2792-13_2792-12delinsCT
NM_001243182.1:c.3080-13_3080-12delinsCT NP_001230111.1:n.3080-13_3080-12delinsCT
XM_005266423.2:c.3317-13_3317-12delinsCT XP_005266480.1:n.3317-13_3317-12delinsCT
XM_005266424.3:c.3317-13_3317-12delinsCT XP_005266481.1:n.3317-13_3317-12delinsCT
XM_005266427.2:c.3179-13_3179-12delinsCT XP_005266484.1:n.3179-13_3179-12delinsCT
XM_005266428.1:c.3161-13_3161-12delinsCT XP_005266485.1:n.3161-13_3161-12delinsCT
XM_005266430.3:c.3413-13_3413-12delinsCT XP_005266487.1:n.3413-13_3413-12delinsCT
XM_005266431.2:c.3377-13_3377-12delinsCT XP_005266488.1:n.3377-13_3377-12delinsCT
XM_005266432.2:c.2927-13_2927-12delinsCT XP_005266489.1:n.2927-13_2927-12delinsCT
XM_006719837.2:c.3317-13_3317-12delinsCT XP_006719900.1:n.3317-13_3317-12delinsCT
XM_006719838.1:c.1229-13_1229-12delinsCT XP_006719901.1:n.1229-13_1229-12delinsCT
XM_006719839.1:c.1046-13_1046-12delinsCT XP_006719902.1:n.1046-13_1046-12delinsCT
XM_011535117.1:c.3317-13_3317-12delinsCT XP_011533419.1:n.3317-13_3317-12delinsCT
XM_011535118.1:c.3278-13_3278-12delinsCT XP_011533420.1:n.3278-13_3278-12delinsCT
XM_011535119.1:c.3230-13_3230-12delinsCT XP_011533421.1:n.3230-13_3230-12delinsCT
XM_011535120.1:c.2999-13_2999-12delinsCT XP_011533422.1:n.2999-13_2999-12delinsCT
XM_011535121.1:c.2900-13_2900-12delinsCT XP_011533423.1:n.2900-13_2900-12delinsCT
XM_011535122.1:c.2081-13_2081-12delinsCT XP_011533424.1:n.2081-13_2081-12delinsCT
XR_941601.1:n.3632-13_3632-12delinsCT
XR_941602.1:n.3632-13_3632-12delinsCT
XR_941603.1:n.3632-13_3632-12delinsCT
XR_941604.1:n.3632-13_3632-12delinsCT
NM_001330578.1:c.3179-13_3179-12delinsCT NP_001317507.1:n.3179-13_3179-12delinsCT
NM_001330579.1:c.3161-13_3161-12delinsCT NP_001317508.1:n.3161-13_3161-12delinsCT
XM_005266424.4:c.3317-13_3317-12delinsCT XP_005266481.1:n.3317-13_3317-12delinsCT
XM_005266430.4:c.3413-13_3413-12delinsCT XP_005266487.1:n.3413-13_3413-12delinsCT
XM_005266431.4:c.3377-13_3377-12delinsCT XP_005266488.1:n.3377-13_3377-12delinsCT
XM_006719837.3:c.3317-13_3317-12delinsCT XP_006719900.1:n.3317-13_3317-12delinsCT
XM_011535117.3:c.3317-13_3317-12delinsCT XP_011533419.1:n.3317-13_3317-12delinsCT
XM_017020627.1:c.3317-13_3317-12delinsCT XP_016876116.1:n.3317-13_3317-12delinsCT
NM_000053.4:c.3413-13_3413-12delinsCT MANE Select NP_000044.2:n.3413-13_3413-12delinsCT
NM_001005918.3:c.2792-13_2792-12delinsCT NP_001005918.1:n.2792-13_2792-12delinsCT
NM_001330579.2:c.3161-13_3161-12delinsCT NP_001317508.1:n.3161-13_3161-12delinsCT
NM_001243182.2:c.3080-13_3080-12delinsCT NP_001230111.1:n.3080-13_3080-12delinsCT
NM_001330578.2:c.3179-13_3179-12delinsCT NP_001317507.1:n.3179-13_3179-12delinsCT