Canonical Allele Identifier: CA643005160

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs1557231665
• gnomAD v2: X-77244215-CAG-C
• gnomAD v4: X-77988719-CAG-C
• MyVariant Identifiers: chrX:g.77244216_77244217del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77988720_77988721del , CM000685.2:g.77988720_77988721del	GRCh38
NC_000023.10:g.77244216_77244217del , CM000685.1:g.77244216_77244217del	GRCh37
NC_000023.9:g.77130872_77130873del	NCBI36
NG_013224.2:g.83024_83025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.629_630del (ATP7A)	ENSP00000343026.6:p.Gln210ProfsTer3
ENST00000682742.2:n.761_762del (ATP7A)
ENST00000685208.1:n.761_762del (ATP7A)
ENST00000685264.1:c.599_600del (ATP7A)	ENSP00000510136.1:p.Gln200ProfsTer3
ENST00000685434.1:n.717_718del (ATP7A)
ENST00000685885.1:c.635_636del (ATP7A)	ENSP00000510005.1:p.Gln212ProfsTer3
ENST00000686033.1:c.599_600del (ATP7A)	ENSP00000510693.1:p.Gln200ProfsTer3
ENST00000686133.1:c.599_600del (ATP7A)	ENSP00000509233.1:p.Gln200ProfsTer3
ENST00000686416.1:n.953_954del (ATP7A)
ENST00000686480.1:c.599_600del (ATP7A)	ENSP00000508978.1:p.Gln200ProfsTer3
ENST00000686515.1:n.739_740del (ATP7A)
ENST00000686543.1:c.599_600del (ATP7A)	ENSP00000509477.1:p.Gln200ProfsTer3
ENST00000686688.1:c.599_600del (ATP7A)	ENSP00000509416.1:p.Gln200ProfsTer3
ENST00000686999.1:n.910_911del (ATP7A)
ENST00000687082.1:n.717_718del (ATP7A)
ENST00000687086.1:c.599_600del (ATP7A)	ENSP00000509566.1:p.Gln200ProfsTer3
ENST00000687325.1:n.902_903del (ATP7A)
ENST00000687416.1:c.599_600del (ATP7A)	ENSP00000510310.1:p.Gln200ProfsTer3
ENST00000687599.1:c.599_600del (ATP7A)	ENSP00000508745.1:p.Gln200ProfsTer3
ENST00000687628.1:n.700_701del (ATP7A)
ENST00000687984.1:c.599_600del (ATP7A)	ENSP00000510772.1:p.Gln200ProfsTer3
ENST00000688249.1:c.599_600del (ATP7A)	ENSP00000510644.1:p.Gln200ProfsTer3
ENST00000688338.1:c.599_600del (ATP7A)	ENSP00000508672.1:p.Gln200ProfsTer3
ENST00000688746.1:n.751_752del (ATP7A)
ENST00000688889.1:c.*513_*514del (ATP7A)	ENSP00000508610.1:n.*513_*514del
ENST00000689530.1:c.599_600del (ATP7A)	ENSP00000509707.1:p.Gln200ProfsTer3
ENST00000689541.1:n.908_909del (ATP7A)
ENST00000689649.1:c.599_600del (ATP7A)	ENSP00000509277.1:p.Gln200ProfsTer3
ENST00000689767.1:c.599_600del (ATP7A)	ENSP00000509406.1:p.Gln200ProfsTer3
ENST00000689872.1:c.599_600del (ATP7A)	ENSP00000509373.1:p.Gln200ProfsTer3
ENST00000689891.1:c.599_600del (ATP7A)	ENSP00000508974.1:p.Gln200ProfsTer3
ENST00000691152.1:c.599_600del (ATP7A)	ENSP00000508843.1:p.Gln200ProfsTer3
ENST00000691456.1:n.890_891del (ATP7A)
ENST00000692110.1:c.599_600del (ATP7A)	ENSP00000509366.1:p.Gln200ProfsTer3
ENST00000692908.1:c.599_600del (ATP7A)	ENSP00000508627.1:p.Gln200ProfsTer3
ENST00000693051.1:c.599_600del (ATP7A)	ENSP00000510332.1:p.Gln200ProfsTer3
ENST00000693387.1:c.*528_*529del (ATP7A)	ENSP00000508732.1:n.*528_*529del
ENST00000693398.1:c.599_600del (ATP7A)	ENSP00000510089.1:p.Gln200ProfsTer3
ENST00000341514.11:c.599_600del (ATP7A) MANE Select	ENSP00000345728.6:p.Gln200ProfsTer3
ENST00000644362.1:c.-20+77885_-20+77886del (PGK1)	ENSP00000496140.1:n.-20+77885_-20+77886del
ENST00000645094.1:c.*513_*514del (ATP7A)	ENSP00000493605.1:n.*513_*514del
ENST00000341514.10:c.599_600del (ATP7A)	ENSP00000345728.6:p.Gln200ProfsTer3
ENST00000343533.9:c.599_600del (ATP7A)	ENSP00000343026.5:p.Gln200ProfsTer3
ENST00000350425.5:c.599_600del (ATP7A)	ENSP00000343678.5:p.Gln200ProfsTer3
NM_000052.6:c.599_600del (ATP7A)	NP_000043.4:p.Gln200ProfsTer3
NM_001282224.1:c.599_600del (ATP7A)	NP_001269153.1:p.Gln200ProfsTer3
NR_104109.1:n.321+16959_321+16960del (ATP7A)
NM_000052.7:c.599_600del (ATP7A) MANE Select	NP_000043.4:p.Gln200ProfsTer3
NR_104109.2:n.284+16959_284+16960del (ATP7A)
NM_001282224.2:c.599_600del (ATP7A)	NP_001269153.1:p.Gln200ProfsTer3