Canonical Allele Identifier: CA2091559265

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941079_51941081delinsACC , CM000675.2:g.51941079_51941081delinsACC	GRCh38
NC_000013.10:g.52515215_52515217delinsACC , CM000675.1:g.52515215_52515217delinsACC	GRCh37
NC_000013.9:g.51413216_51413218delinsACC	NCBI36
NG_008806.1:g.75414_75416delinsGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1206_*1206+2delinsGGT
ENST00000673864.2:c.*2300_*2300+2delinsGGT
ENST00000674147.2:c.2935_2935+2delinsGGT
ENST00000242839.10:c.3556_3556+2delinsGGT
ENST00000344297.9:c.2935_2935+2delinsGGT
ENST00000400366.6:c.3223_3223+2delinsGGT
ENST00000448424.7:c.3304_3304+2delinsGGT
ENST00000673772.1:c.3322_3322+2delinsGGT
ENST00000673867.1:n.3695_3695+2delinsGGT
ENST00000674126.1:n.3919_3921delinsGGT
ENST00000674147.1:c.2491_2491+2delinsGGT
ENST00000242839.8:c.3556_3556+2delinsGGT
ENST00000344297.8:c.2935_2935+2delinsGGT
ENST00000400366.5:c.3223_3223+2delinsGGT
ENST00000400370.8:c.2266_2266+2delinsGGT
ENST00000418097.7:c.3361_3361+2delinsGGT
ENST00000448424.6:c.3322_3322+2delinsGGT
ENST00000634296.1:c.1334_1334+2delinsGGT
ENST00000634308.1:c.*657_*657+2delinsGGT
ENST00000634620.1:n.4300_4300+2delinsGGT
ENST00000634810.1:n.2901_2901+2delinsGGT
ENST00000634844.1:c.3412_3412+2delinsGGT
NM_000053.3:c.3556_3556+2delinsGGT
NM_001005918.2:c.2935_2935+2delinsGGT
NM_001243182.1:c.3223_3223+2delinsGGT
XM_005266423.2:c.3460_3460+2delinsGGT
XM_005266424.3:c.3460_3460+2delinsGGT
XM_005266427.2:c.3322_3322+2delinsGGT
XM_005266428.1:c.3304_3304+2delinsGGT
XM_005266430.3:c.3556_3556+2delinsGGT
XM_005266431.2:c.3520_3520+2delinsGGT
XM_005266432.2:c.3070_3070+2delinsGGT
XM_006719837.2:c.3460_3460+2delinsGGT
XM_006719838.1:c.1372_1372+2delinsGGT
XM_006719839.1:c.1189_1189+2delinsGGT
XM_011535117.1:c.3460_3460+2delinsGGT
XM_011535118.1:c.3421_3421+2delinsGGT
XM_011535119.1:c.3373_3373+2delinsGGT
XM_011535120.1:c.3142_3142+2delinsGGT
XM_011535121.1:c.3043_3043+2delinsGGT
XM_011535122.1:c.2224_2224+2delinsGGT
XR_941601.1:n.3775_3775+2delinsGGT
XR_941602.1:n.3775_3775+2delinsGGT
XR_941603.1:n.3775_3775+2delinsGGT
XR_941604.1:n.3775_3775+2delinsGGT
NM_001330578.1:c.3322_3322+2delinsGGT
NM_001330579.1:c.3304_3304+2delinsGGT
XM_005266424.4:c.3460_3460+2delinsGGT
XM_005266430.4:c.3556_3556+2delinsGGT
XM_005266431.4:c.3520_3520+2delinsGGT
XM_006719837.3:c.3460_3460+2delinsGGT
XM_011535117.3:c.3460_3460+2delinsGGT
XM_017020627.1:c.3460_3460+2delinsGGT
NM_000053.4:c.3556_3556+2delinsGGT
NM_001005918.3:c.2935_2935+2delinsGGT
NM_001330579.2:c.3304_3304+2delinsGGT
NM_001243182.2:c.3223_3223+2delinsGGT
NM_001330578.2:c.3322_3322+2delinsGGT