Canonical Allele Identifier: CA2580612270

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 2571512
• ClinVar RCV Id: RCV003312912

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011190dup , CM000685.2:g.78011190dup	GRCh38
NC_000023.10:g.77266687dup , CM000685.1:g.77266687dup	GRCh37
NC_000023.9:g.77153343dup	NCBI36
NG_013224.2:g.105494dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.1914dup (ATP7A)	ENSP00000343026.6:p.Ala639SerfsTer16
ENST00000682475.1:n.339dup (ATP7A)
ENST00000685264.1:c.1884dup (ATP7A)	ENSP00000510136.1:p.Ala629SerfsTer16
ENST00000686033.1:c.1884dup (ATP7A)	ENSP00000510693.1:p.Ala629SerfsTer16
ENST00000686133.1:c.1884dup (ATP7A)	ENSP00000509233.1:p.Ala629SerfsTer16
ENST00000686255.1:n.719dup (ATP7A)
ENST00000686480.1:c.1884dup (ATP7A)	ENSP00000508978.1:p.Ala629SerfsTer16
ENST00000686515.1:n.2024dup (ATP7A)
ENST00000686543.1:c.1884dup (ATP7A)	ENSP00000509477.1:p.Ala629SerfsTer16
ENST00000686688.1:c.1884dup (ATP7A)	ENSP00000509416.1:p.Ala629SerfsTer16
ENST00000686999.1:n.2195dup (ATP7A)
ENST00000687086.1:c.1884dup (ATP7A)	ENSP00000509566.1:p.Ala629SerfsTer16
ENST00000687628.1:n.3897dup (ATP7A)
ENST00000688746.1:n.2036dup (ATP7A)
ENST00000689530.1:c.1884dup (ATP7A)	ENSP00000509707.1:p.Ala629SerfsTer16
ENST00000689649.1:c.1884dup (ATP7A)	ENSP00000509277.1:p.Ala629SerfsTer16
ENST00000689767.1:c.1977dup (ATP7A)	ENSP00000509406.1:p.Ala660SerfsTer16
ENST00000689872.1:c.1870-259dup (ATP7A)	ENSP00000509373.1:n.1870-259dup
ENST00000692110.1:c.1800dup (ATP7A)	ENSP00000509366.1:p.Ala601SerfsTer16
ENST00000692908.1:c.1884dup (ATP7A)	ENSP00000508627.1:p.Ala629SerfsTer16
ENST00000693398.1:c.1884dup (ATP7A)	ENSP00000510089.1:p.Ala629SerfsTer16
ENST00000341514.11:c.1884dup (ATP7A) MANE Select	ENSP00000345728.6:p.Ala629SerfsTer16
ENST00000644362.1:c.-19-98677dup (PGK1)	ENSP00000496140.1:n.-19-98677dup
ENST00000645094.1:c.*1798dup (ATP7A)	ENSP00000493605.1:n.*1798dup
ENST00000341514.10:c.1884dup (ATP7A)	ENSP00000345728.6:p.Ala629SerfsTer16
ENST00000343533.9:c.1884dup (ATP7A)	ENSP00000343026.5:p.Ala629SerfsTer16
ENST00000350425.5:c.*1057dup (ATP7A)	ENSP00000343678.5:n.*1057dup
NM_000052.6:c.1884dup (ATP7A)	NP_000043.4:p.Ala629SerfsTer16
NM_001282224.1:c.1884dup (ATP7A)	NP_001269153.1:p.Ala629SerfsTer16
NR_104109.1:n.322-20210dup (ATP7A)
NM_000052.7:c.1884dup (ATP7A) MANE Select	NP_000043.4:p.Ala629SerfsTer16
NR_104109.2:n.285-20210dup (ATP7A)
NM_001282224.2:c.1884dup (ATP7A)	NP_001269153.1:p.Ala629SerfsTer16