Canonical Allele Identifier: CA2580101494

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1725630
• ClinVar RCV Id: RCV002309314

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011588_78011589del , CM000685.2:g.78011588_78011589del	GRCh38
NC_000023.10:g.77267085_77267086del , CM000685.1:g.77267085_77267086del	GRCh37
NC_000023.9:g.77153741_77153742del	NCBI36
NG_013224.2:g.105892_105893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2116_2117del (ATP7A)	ENSP00000343026.6:p.His706PhefsTer?
ENST00000682475.1:n.737_738del (ATP7A)
ENST00000685264.1:c.2086_2087del (ATP7A)	ENSP00000510136.1:p.His696PhefsTer?
ENST00000686033.1:c.2086_2087del (ATP7A)	ENSP00000510693.1:p.His696PhefsTer?
ENST00000686133.1:c.2086_2087del (ATP7A)	ENSP00000509233.1:p.His696PhefsTer?
ENST00000686255.1:n.1117_1118del (ATP7A)
ENST00000686480.1:c.2086_2087del (ATP7A)	ENSP00000508978.1:p.His696PhefsTer?
ENST00000686515.1:n.2226_2227del (ATP7A)
ENST00000686543.1:c.2086_2087del (ATP7A)	ENSP00000509477.1:p.His696PhefsTer?
ENST00000686688.1:c.2086_2087del (ATP7A)	ENSP00000509416.1:p.His696PhefsTer?
ENST00000686999.1:n.2397_2398del (ATP7A)
ENST00000687086.1:c.2086_2087del (ATP7A)	ENSP00000509566.1:p.His696PhefsTer?
ENST00000687628.1:n.4295_4296del (ATP7A)
ENST00000688746.1:n.2238_2239del (ATP7A)
ENST00000689514.1:n.128_129del (ATP7A)
ENST00000689530.1:c.2086_2087del (ATP7A)	ENSP00000509707.1:p.His696PhefsTer?
ENST00000689649.1:c.2086_2087del (ATP7A)	ENSP00000509277.1:p.His696PhefsTer?
ENST00000689767.1:c.2179_2180del (ATP7A)	ENSP00000509406.1:p.His727PhefsTer?
ENST00000689872.1:c.*35_*36del (ATP7A)	ENSP00000509373.1:n.*35_*36del
ENST00000692110.1:c.2002_2003del (ATP7A)	ENSP00000509366.1:p.His668PhefsTer?
ENST00000692908.1:c.2086_2087del (ATP7A)	ENSP00000508627.1:p.His696PhefsTer?
ENST00000693398.1:c.2086_2087del (ATP7A)	ENSP00000510089.1:p.His696PhefsTer?
ENST00000341514.11:c.2086_2087del (ATP7A) MANE Select	ENSP00000345728.6:p.His696PhefsTer?
ENST00000644362.1:c.-19-98279_-19-98278del (PGK1)	ENSP00000496140.1:n.-19-98279_-19-98278del
ENST00000645094.1:c.*2000_*2001del (ATP7A)	ENSP00000493605.1:n.*2000_*2001del
ENST00000341514.10:c.2086_2087del (ATP7A)	ENSP00000345728.6:p.His696PhefsTer?
ENST00000343533.9:c.2086_2087del (ATP7A)	ENSP00000343026.5:p.His696PhefsTer?
ENST00000350425.5:c.*1259_*1260del (ATP7A)	ENSP00000343678.5:n.*1259_*1260del
NM_000052.6:c.2086_2087del (ATP7A)	NP_000043.4:p.His696PhefsTer?
NM_001282224.1:c.2086_2087del (ATP7A)	NP_001269153.1:p.His696PhefsTer?
NR_104109.1:n.322-19812_322-19811del (ATP7A)
NM_000052.7:c.2086_2087del (ATP7A) MANE Select	NP_000043.4:p.His696PhefsTer?
NR_104109.2:n.285-19812_285-19811del (ATP7A)
NM_001282224.2:c.2086_2087del (ATP7A)	NP_001269153.1:p.His696PhefsTer?