Canonical Allele Identifier: CA2091564059
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51944234_51944243delinsTGACCCTGGG , CM000675.2:g.51944234_51944243delinsTGACCCTGGG GRCh38
NC_000013.10:g.52518370_52518379delinsTGACCCTGGG , CM000675.1:g.52518370_52518379delinsTGACCCTGGG GRCh37
NC_000013.9:g.51416371_51416380delinsTGACCCTGGG NCBI36
NG_008806.1:g.72252_72261delinsCCCAGGGTCA

Transcript Alleles

HGVS Amino-acid change
ENST00000634296.2:c.*894-1689_*894-1680delinsCCCAGGGTCA ENSP00000489512.2:n.*894-1689_*894-1680de...
ENST00000673864.2:c.*1853_*1862delinsCCCAGGGTCA ENSP00000501045.2:n.*1853_*1862delinsCCCA...
ENST00000674147.2:c.2488_2497delinsCCCAGGGTCA ENSP00000500964.2:p.Pro830=
ENST00000242839.10:c.3109_3118delinsCCCAGGGTCA MANE Select ENSP00000242839.5:p.Pro1037=
ENST00000344297.9:c.2488_2497delinsCCCAGGGTCA ENSP00000342559.5:p.Pro830=
ENST00000400366.6:c.2776_2785delinsCCCAGGGTCA ENSP00000383217.3:p.Pro926=
ENST00000448424.7:c.2857_2866delinsCCCAGGGTCA ENSP00000416738.3:p.Pro953=
ENST00000673772.1:c.2875_2884delinsCCCAGGGTCA ENSP00000501168.1:p.Pro959=
ENST00000673867.1:n.3248_3257delinsCCCAGGGTCA
ENST00000674126.1:n.3472_3481delinsCCCAGGGTCA
ENST00000674147.1:c.2044_2053delinsCCCAGGGTCA ENSP00000500964.1:p.Pro682=
ENST00000242839.8:c.3109_3118delinsCCCAGGGTCA ENSP00000242839.4:p.Pro1037=
ENST00000344297.8:c.2488_2497delinsCCCAGGGTCA ENSP00000342559.5:p.Pro830=
ENST00000400366.5:c.2776_2785delinsCCCAGGGTCA ENSP00000383217.3:p.Pro926=
ENST00000400370.8:c.1819_1828delinsCCCAGGGTCA ENSP00000383221.3:p.Pro607=
ENST00000418097.7:c.2914_2923delinsCCCAGGGTCA ENSP00000393343.2:p.Pro972=
ENST00000448424.6:c.2875_2884delinsCCCAGGGTCA ENSP00000416738.2:p.Pro959=
ENST00000466629.1:n.329_338delinsCCCAGGGTCA
ENST00000634296.1:c.1022-1689_1022-1680delinsCCCAGGGTCA
ENST00000634308.1:c.*210_*219delinsCCCAGGGTCA ENSP00000489234.1:n.*210_*219delinsCCCAGG...
ENST00000634620.1:n.3853_3862delinsCCCAGGGTCA
ENST00000634810.1:n.2454_2463delinsCCCAGGGTCA
ENST00000634844.1:c.2965_2974delinsCCCAGGGTCA ENSP00000489398.1:p.Pro989=
ENST00000635406.1:n.455_464delinsCCCAGGGTCA
NM_000053.3:c.3109_3118delinsCCCAGGGTCA NP_000044.2:p.Pro1037=
NM_001005918.2:c.2488_2497delinsCCCAGGGTCA NP_001005918.1:p.Pro830=
NM_001243182.1:c.2776_2785delinsCCCAGGGTCA NP_001230111.1:p.Pro926=
XM_005266423.2:c.3013_3022delinsCCCAGGGTCA XP_005266480.1:p.Pro1005=
XM_005266424.3:c.3013_3022delinsCCCAGGGTCA XP_005266481.1:p.Pro1005=
XM_005266427.2:c.2875_2884delinsCCCAGGGTCA XP_005266484.1:p.Pro959=
XM_005266428.1:c.2857_2866delinsCCCAGGGTCA XP_005266485.1:p.Pro953=
XM_005266430.3:c.3109_3118delinsCCCAGGGTCA XP_005266487.1:p.Pro1037=
XM_005266431.2:c.3073_3082delinsCCCAGGGTCA XP_005266488.1:p.Pro1025=
XM_005266432.2:c.2623_2632delinsCCCAGGGTCA XP_005266489.1:p.Pro875=
XM_006719837.2:c.3013_3022delinsCCCAGGGTCA XP_006719900.1:p.Pro1005=
XM_006719838.1:c.925_934delinsCCCAGGGTCA XP_006719901.1:p.Pro309=
XM_006719839.1:c.877-1689_877-1680delinsCCCAGGGTCA XP_006719902.1:n.877-1689_877-1680delinsC...
XM_011535117.1:c.3013_3022delinsCCCAGGGTCA XP_011533419.1:p.Pro1005=
XM_011535118.1:c.2974_2983delinsCCCAGGGTCA XP_011533420.1:p.Pro992=
XM_011535119.1:c.3061-1689_3061-1680delinsCCCAGGGTCA XP_011533421.1:n.3061-1689_3061-1680delin...
XM_011535120.1:c.2695_2704delinsCCCAGGGTCA XP_011533422.1:p.Pro899=
XM_011535121.1:c.2731-1689_2731-1680delinsCCCAGGGTCA XP_011533423.1:n.2731-1689_2731-1680delin...
XM_011535122.1:c.1777_1786delinsCCCAGGGTCA XP_011533424.1:p.Pro593=
XR_941601.1:n.3328_3337delinsCCCAGGGTCA
XR_941602.1:n.3328_3337delinsCCCAGGGTCA
XR_941603.1:n.3328_3337delinsCCCAGGGTCA
XR_941604.1:n.3328_3337delinsCCCAGGGTCA
NM_001330578.1:c.2875_2884delinsCCCAGGGTCA NP_001317507.1:p.Pro959=
NM_001330579.1:c.2857_2866delinsCCCAGGGTCA NP_001317508.1:p.Pro953=
XM_005266424.4:c.3013_3022delinsCCCAGGGTCA XP_005266481.1:p.Pro1005=
XM_005266430.4:c.3109_3118delinsCCCAGGGTCA XP_005266487.1:p.Pro1037=
XM_005266431.4:c.3073_3082delinsCCCAGGGTCA XP_005266488.1:p.Pro1025=
XM_006719837.3:c.3013_3022delinsCCCAGGGTCA XP_006719900.1:p.Pro1005=
XM_011535117.3:c.3013_3022delinsCCCAGGGTCA XP_011533419.1:p.Pro1005=
XM_017020627.1:c.3013_3022delinsCCCAGGGTCA XP_016876116.1:p.Pro1005=
NM_000053.4:c.3109_3118delinsCCCAGGGTCA MANE Select NP_000044.2:p.Pro1037=
NM_001005918.3:c.2488_2497delinsCCCAGGGTCA NP_001005918.1:p.Pro830=
NM_001330579.2:c.2857_2866delinsCCCAGGGTCA NP_001317508.1:p.Pro953=
NM_001243182.2:c.2776_2785delinsCCCAGGGTCA NP_001230111.1:p.Pro926=
NM_001330578.2:c.2875_2884delinsCCCAGGGTCA NP_001317507.1:p.Pro959=