Canonical Allele Identifier: CA2580612266

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 2571461
• ClinVar RCV Id: RCV003312861

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009164_78009165del , CM000685.2:g.78009164_78009165del	GRCh38
NC_000023.10:g.77264661_77264662del , CM000685.1:g.77264661_77264662del	GRCh37
NC_000023.9:g.77151317_77151318del	NCBI36
NG_013224.2:g.103468_103469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1800_1801del (ATP7A)	ENSP00000343026.6:p.Gly601AspfsTer16
ENST00000682742.2:n.1932_1933del (ATP7A)
ENST00000685264.1:c.1770_1771del (ATP7A)	ENSP00000510136.1:p.Gly591AspfsTer16
ENST00000685434.1:n.1804_1805del (ATP7A)
ENST00000686033.1:c.1770_1771del (ATP7A)	ENSP00000510693.1:p.Gly591AspfsTer16
ENST00000686133.1:c.1770_1771del (ATP7A)	ENSP00000509233.1:p.Gly591AspfsTer16
ENST00000686416.1:n.2124_2125del (ATP7A)
ENST00000686480.1:c.1770_1771del (ATP7A)	ENSP00000508978.1:p.Gly591AspfsTer16
ENST00000686515.1:n.1910_1911del (ATP7A)
ENST00000686543.1:c.1770_1771del (ATP7A)	ENSP00000509477.1:p.Gly591AspfsTer16
ENST00000686688.1:c.1770_1771del (ATP7A)	ENSP00000509416.1:p.Gly591AspfsTer16
ENST00000686999.1:n.2081_2082del (ATP7A)
ENST00000687086.1:c.1770_1771del (ATP7A)	ENSP00000509566.1:p.Gly591AspfsTer16
ENST00000687628.1:n.1871_1872del (ATP7A)
ENST00000688746.1:n.1922_1923del (ATP7A)
ENST00000689530.1:c.1770_1771del (ATP7A)	ENSP00000509707.1:p.Gly591AspfsTer16
ENST00000689541.1:n.2079_2080del (ATP7A)
ENST00000689649.1:c.1770_1771del (ATP7A)	ENSP00000509277.1:p.Gly591AspfsTer16
ENST00000689767.1:c.1863_1864del (ATP7A)	ENSP00000509406.1:p.Gly622AspfsTer16
ENST00000689872.1:c.1770_1771del (ATP7A)	ENSP00000509373.1:p.Gly591AspfsTer16
ENST00000692110.1:c.1686_1687del (ATP7A)	ENSP00000509366.1:p.Gly563AspfsTer16
ENST00000692908.1:c.1770_1771del (ATP7A)	ENSP00000508627.1:p.Gly591AspfsTer16
ENST00000693387.1:c.*1699_*1700del (ATP7A)	ENSP00000508732.1:n.*1699_*1700del
ENST00000693398.1:c.1770_1771del (ATP7A)	ENSP00000510089.1:p.Gly591AspfsTer16
ENST00000341514.11:c.1770_1771del (ATP7A) MANE Select	ENSP00000345728.6:p.Gly591AspfsTer16
ENST00000644362.1:c.-20+98329_-20+98330del (PGK1)	ENSP00000496140.1:n.-20+98329_-20+98330del
ENST00000645094.1:c.*1684_*1685del (ATP7A)	ENSP00000493605.1:n.*1684_*1685del
ENST00000341514.10:c.1770_1771del (ATP7A)	ENSP00000345728.6:p.Gly591AspfsTer16
ENST00000343533.9:c.1770_1771del (ATP7A)	ENSP00000343026.5:p.Gly591AspfsTer16
ENST00000350425.5:c.*943_*944del (ATP7A)	ENSP00000343678.5:n.*943_*944del
NM_000052.6:c.1770_1771del (ATP7A)	NP_000043.4:p.Gly591AspfsTer16
NM_001282224.1:c.1770_1771del (ATP7A)	NP_001269153.1:p.Gly591AspfsTer16
NR_104109.1:n.322-22236_322-22235del (ATP7A)
NM_000052.7:c.1770_1771del (ATP7A) MANE Select	NP_000043.4:p.Gly591AspfsTer16
NR_104109.2:n.285-22236_285-22235del (ATP7A)
NM_001282224.2:c.1770_1771del (ATP7A)	NP_001269153.1:p.Gly591AspfsTer16