Canonical Allele Identifier: CA878418184

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs1324590145
• gnomAD v3: X-77988798-TTTC-T
• gnomAD v4: X-77988798-TTTC-T
• MyVariant Identifiers: chrX:g.77988799_77988801del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77988804_77988806del , CM000685.2:g.77988804_77988806del	GRCh38
NC_000023.10:g.77244300_77244302del , CM000685.1:g.77244300_77244302del	GRCh37
NC_000023.9:g.77130956_77130958del	NCBI36
NG_013224.2:g.83108_83110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.640+73_640+75del (ATP7A)	ENSP00000343026.6:n.640+73_640+75del
ENST00000682742.2:n.772+73_772+75del (ATP7A)
ENST00000685208.1:n.845_847del (ATP7A)
ENST00000685264.1:c.610+73_610+75del (ATP7A)	ENSP00000510136.1:n.610+73_610+75del
ENST00000685434.1:n.728+73_728+75del (ATP7A)
ENST00000685885.1:c.646+73_646+75del (ATP7A)	ENSP00000510005.1:n.646+73_646+75del
ENST00000686033.1:c.610+73_610+75del (ATP7A)	ENSP00000510693.1:n.610+73_610+75del
ENST00000686133.1:c.610+73_610+75del (ATP7A)	ENSP00000509233.1:n.610+73_610+75del
ENST00000686416.1:n.964+73_964+75del (ATP7A)
ENST00000686480.1:c.610+73_610+75del (ATP7A)	ENSP00000508978.1:n.610+73_610+75del
ENST00000686515.1:n.750+73_750+75del (ATP7A)
ENST00000686543.1:c.610+73_610+75del (ATP7A)	ENSP00000509477.1:n.610+73_610+75del
ENST00000686688.1:c.610+73_610+75del (ATP7A)	ENSP00000509416.1:n.610+73_610+75del
ENST00000686999.1:n.921+73_921+75del (ATP7A)
ENST00000687082.1:n.801_803del (ATP7A)
ENST00000687086.1:c.610+73_610+75del (ATP7A)	ENSP00000509566.1:n.610+73_610+75del
ENST00000687325.1:n.986_988del (ATP7A)
ENST00000687416.1:c.610+73_610+75del (ATP7A)	ENSP00000510310.1:n.610+73_610+75del
ENST00000687599.1:c.610+73_610+75del (ATP7A)	ENSP00000508745.1:n.610+73_610+75del
ENST00000687628.1:n.711+73_711+75del (ATP7A)
ENST00000687984.1:c.610+73_610+75del (ATP7A)	ENSP00000510772.1:n.610+73_610+75del
ENST00000688249.1:c.610+73_610+75del (ATP7A)	ENSP00000510644.1:n.610+73_610+75del
ENST00000688338.1:c.610+73_610+75del (ATP7A)	ENSP00000508672.1:n.610+73_610+75del
ENST00000688746.1:n.762+73_762+75del (ATP7A)
ENST00000688889.1:c.*524+73_*524+75del (ATP7A)	ENSP00000508610.1:n.*524+73_*524+75del
ENST00000689530.1:c.610+73_610+75del (ATP7A)	ENSP00000509707.1:n.610+73_610+75del
ENST00000689541.1:n.919+73_919+75del (ATP7A)
ENST00000689649.1:c.610+73_610+75del (ATP7A)	ENSP00000509277.1:n.610+73_610+75del
ENST00000689767.1:c.610+73_610+75del (ATP7A)	ENSP00000509406.1:n.610+73_610+75del
ENST00000689872.1:c.610+73_610+75del (ATP7A)	ENSP00000509373.1:n.610+73_610+75del
ENST00000689891.1:c.610+73_610+75del (ATP7A)	ENSP00000508974.1:n.610+73_610+75del
ENST00000691152.1:c.610+73_610+75del (ATP7A)	ENSP00000508843.1:n.610+73_610+75del
ENST00000691456.1:n.901+73_901+75del (ATP7A)
ENST00000692110.1:c.610+73_610+75del (ATP7A)	ENSP00000509366.1:n.610+73_610+75del
ENST00000692908.1:c.610+73_610+75del (ATP7A)	ENSP00000508627.1:n.610+73_610+75del
ENST00000693051.1:c.610+73_610+75del (ATP7A)	ENSP00000510332.1:n.610+73_610+75del
ENST00000693387.1:c.*539+73_*539+75del (ATP7A)	ENSP00000508732.1:n.*539+73_*539+75del
ENST00000693398.1:c.610+73_610+75del (ATP7A)	ENSP00000510089.1:n.610+73_610+75del
ENST00000341514.11:c.610+73_610+75del (ATP7A) MANE Select	ENSP00000345728.6:n.610+73_610+75del
ENST00000644362.1:c.-20+77969_-20+77971del (PGK1)	ENSP00000496140.1:n.-20+77969_-20+77971del
ENST00000645094.1:c.*524+73_*524+75del (ATP7A)	ENSP00000493605.1:n.*524+73_*524+75del
ENST00000341514.10:c.610+73_610+75del (ATP7A)	ENSP00000345728.6:n.610+73_610+75del
ENST00000343533.9:c.610+73_610+75del (ATP7A)	ENSP00000343026.5:n.610+73_610+75del
ENST00000350425.5:c.610+73_610+75del (ATP7A)	ENSP00000343678.5:n.610+73_610+75del
NM_000052.6:c.610+73_610+75del (ATP7A)	NP_000043.4:n.610+73_610+75del
NM_001282224.1:c.610+73_610+75del (ATP7A)	NP_001269153.1:n.610+73_610+75del
NR_104109.1:n.321+17043_321+17045del (ATP7A)
NM_000052.7:c.610+73_610+75del (ATP7A) MANE Select	NP_000043.4:n.610+73_610+75del
NR_104109.2:n.284+17043_284+17045del (ATP7A)
NM_001282224.2:c.610+73_610+75del (ATP7A)	NP_001269153.1:n.610+73_610+75del