Canonical Allele Identifier: CA658655511

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 2571453
• ClinVar RCV Id: RCV003312853

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009142_78009143del , CM000685.2:g.78009142_78009143del	GRCh38
NC_000023.10:g.77264639_77264640del , CM000685.1:g.77264639_77264640del	GRCh37
NC_000023.9:g.77151295_77151296del	NCBI36
NG_013224.2:g.103446_103447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1778_1779del (ATP7A)	ENSP00000343026.6:p.Glu593ValfsTer2
ENST00000682742.2:n.1910_1911del (ATP7A)
ENST00000685264.1:c.1748_1749del (ATP7A)	ENSP00000510136.1:p.Glu583ValfsTer2
ENST00000685434.1:n.1782_1783del (ATP7A)
ENST00000686033.1:c.1748_1749del (ATP7A)	ENSP00000510693.1:p.Glu583ValfsTer2
ENST00000686133.1:c.1748_1749del (ATP7A)	ENSP00000509233.1:p.Glu583ValfsTer2
ENST00000686416.1:n.2102_2103del (ATP7A)
ENST00000686480.1:c.1748_1749del (ATP7A)	ENSP00000508978.1:p.Glu583ValfsTer2
ENST00000686515.1:n.1888_1889del (ATP7A)
ENST00000686543.1:c.1748_1749del (ATP7A)	ENSP00000509477.1:p.Glu583ValfsTer2
ENST00000686688.1:c.1748_1749del (ATP7A)	ENSP00000509416.1:p.Glu583ValfsTer2
ENST00000686999.1:n.2059_2060del (ATP7A)
ENST00000687086.1:c.1748_1749del (ATP7A)	ENSP00000509566.1:p.Glu583ValfsTer2
ENST00000687628.1:n.1849_1850del (ATP7A)
ENST00000688746.1:n.1900_1901del (ATP7A)
ENST00000689530.1:c.1748_1749del (ATP7A)	ENSP00000509707.1:p.Glu583ValfsTer2
ENST00000689541.1:n.2057_2058del (ATP7A)
ENST00000689649.1:c.1748_1749del (ATP7A)	ENSP00000509277.1:p.Glu583ValfsTer2
ENST00000689767.1:c.1841_1842del (ATP7A)	ENSP00000509406.1:p.Glu614ValfsTer2
ENST00000689872.1:c.1748_1749del (ATP7A)	ENSP00000509373.1:p.Glu583ValfsTer2
ENST00000692110.1:c.1664_1665del (ATP7A)	ENSP00000509366.1:p.Glu555ValfsTer2
ENST00000692908.1:c.1748_1749del (ATP7A)	ENSP00000508627.1:p.Glu583ValfsTer2
ENST00000693387.1:c.*1677_*1678del (ATP7A)	ENSP00000508732.1:n.*1677_*1678del
ENST00000693398.1:c.1748_1749del (ATP7A)	ENSP00000510089.1:p.Glu583ValfsTer2
ENST00000341514.11:c.1748_1749del (ATP7A) MANE Select	ENSP00000345728.6:p.Glu583ValfsTer2
ENST00000644362.1:c.-20+98307_-20+98308del (PGK1)	ENSP00000496140.1:n.-20+98307_-20+98308del
ENST00000645094.1:c.*1662_*1663del (ATP7A)	ENSP00000493605.1:n.*1662_*1663del
ENST00000341514.10:c.1748_1749del (ATP7A)	ENSP00000345728.6:p.Glu583ValfsTer2
ENST00000343533.9:c.1748_1749del (ATP7A)	ENSP00000343026.5:p.Glu583ValfsTer2
ENST00000350425.5:c.*921_*922del (ATP7A)	ENSP00000343678.5:n.*921_*922del
NM_000052.6:c.1748_1749del (ATP7A)	NP_000043.4:p.Glu583ValfsTer2
NM_001282224.1:c.1748_1749del (ATP7A)	NP_001269153.1:p.Glu583ValfsTer2
NR_104109.1:n.322-22258_322-22257del (ATP7A)
NM_000052.7:c.1748_1749del (ATP7A) MANE Select	NP_000043.4:p.Glu583ValfsTer2
NR_104109.2:n.285-22258_285-22257del (ATP7A)
NM_001282224.2:c.1748_1749del (ATP7A)	NP_001269153.1:p.Glu583ValfsTer2