Canonical Allele Identifier: CA2580087775

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1878229
• ClinVar RCV Id: RCV002510282

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51965991_51974784del , CM000675.2:g.51965991_51974784del	GRCh38
NC_000013.10:g.52540127_52548920del , CM000675.1:g.52540127_52548920del	GRCh37
NC_000013.9:g.51438128_51446921del	NCBI36
NG_008806.1:g.41711_50504del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.436_1708-958del
ENST00000673864.2:c.436_*452-958del
ENST00000674147.2:c.436_1708-958del
ENST00000242839.10:c.436_1708-958del
ENST00000344297.9:c.436_1708-958del
ENST00000400366.6:c.436_1375-958del
ENST00000448424.7:c.436_1708-958del
ENST00000673772.1:c.436_1708-958del
ENST00000242839.8:c.436_1708-958del
ENST00000344297.8:c.436_1708-958del
ENST00000400366.5:c.436_1375-958del
ENST00000400370.8:c.436_1285+7944del
ENST00000418097.7:c.436_1708-958del
ENST00000448424.6:c.436_1708-958del
ENST00000482841.6:n.557_1664+4501del
ENST00000634308.1:c.436_1708-958del
ENST00000634844.1:c.436_1708-958del
ENST00000635406.1:n.212-28306_212-19513del
NM_000053.3:c.436_1708-958del
NM_001005918.2:c.436_1708-958del
NM_001243182.1:c.436_1375-958del
XM_005266423.2:c.340_1612-958del
XM_005266424.3:c.340_1612-958del
XM_005266427.2:c.436_1708-958del
XM_005266428.1:c.436_1708-958del
XM_005266430.3:c.436_1708-958del
XM_005266431.2:c.400_1672-958del
XM_005266432.2:c.436_1708-958del
XM_006719837.2:c.340_1612-958del
XM_011535117.1:c.340_1612-958del
XM_011535118.1:c.436_1708-958del
XM_011535119.1:c.436_1708-958del
XM_011535120.1:c.436_1707+2453del
XM_011535121.1:c.436_1708-958del
XR_941601.1:n.655_1927-958del
XR_941602.1:n.655_1927-958del
XR_941603.1:n.655_1927-958del
XR_941604.1:n.655_1927-958del
NM_001330578.1:c.436_1708-958del
NM_001330579.1:c.436_1708-958del
XM_005266424.4:c.340_1612-958del
XM_005266430.4:c.436_1708-958del
XM_005266431.4:c.400_1672-958del
XM_006719837.3:c.340_1612-958del
XM_011535117.3:c.340_1612-958del
XM_017020627.1:c.340_1612-958del
NM_000053.4:c.436_1708-958del
NM_001005918.3:c.436_1708-958del
NM_001330579.2:c.436_1708-958del
NM_001243182.2:c.436_1375-958del
NM_001330578.2:c.436_1708-958del