Canonical Allele Identifier: CA2580612286

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 2571561
• ClinVar RCV Id: RCV003312961

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78012990_78012991del , CM000685.2:g.78012990_78012991del	GRCh38
NC_000023.10:g.77268487_77268488del , CM000685.1:g.77268487_77268488del	GRCh37
NC_000023.9:g.77155143_77155144del	NCBI36
NG_013224.2:g.107294_107295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2314_2315del (ATP7A)	ENSP00000343026.6:p.Leu772AspfsTer9
ENST00000682475.1:n.823+1316_823+1317del (ATP7A)
ENST00000685264.1:c.2284_2285del (ATP7A)	ENSP00000510136.1:p.Leu762AspfsTer9
ENST00000686033.1:c.2284_2285del (ATP7A)	ENSP00000510693.1:p.Leu762AspfsTer9
ENST00000686133.1:c.2284_2285del (ATP7A)	ENSP00000509233.1:p.Leu762AspfsTer9
ENST00000686255.1:n.1315_1316del (ATP7A)
ENST00000686480.1:c.2172+1316_2172+1317del (ATP7A)	ENSP00000508978.1:n.2172+1316_2172+1317del
ENST00000686543.1:c.2172+1316_2172+1317del (ATP7A)	ENSP00000509477.1:n.2172+1316_2172+1317del
ENST00000686688.1:c.2284_2285del (ATP7A)	ENSP00000509416.1:p.Leu762AspfsTer9
ENST00000687086.1:c.2284_2285del (ATP7A)	ENSP00000509566.1:p.Leu762AspfsTer9
ENST00000688746.1:n.3640_3641del (ATP7A)
ENST00000689514.1:n.326_327del (ATP7A)
ENST00000689530.1:c.2284_2285del (ATP7A)	ENSP00000509707.1:p.Leu762AspfsTer9
ENST00000689649.1:c.2284_2285del (ATP7A)	ENSP00000509277.1:p.Leu762AspfsTer9
ENST00000689767.1:c.2377_2378del (ATP7A)	ENSP00000509406.1:p.Leu793AspfsTer9
ENST00000689872.1:c.*233_*234del (ATP7A)	ENSP00000509373.1:n.*233_*234del
ENST00000692908.1:c.2172+1316_2172+1317del (ATP7A)	ENSP00000508627.1:n.2172+1316_2172+1317del
ENST00000693398.1:c.2284_2285del (ATP7A)	ENSP00000510089.1:p.Leu762AspfsTer9
ENST00000341514.11:c.2284_2285del (ATP7A) MANE Select	ENSP00000345728.6:p.Leu762AspfsTer9
ENST00000644362.1:c.-19-96877_-19-96876del (PGK1)	ENSP00000496140.1:n.-19-96877_-19-96876del
ENST00000645094.1:c.*2198_*2199del (ATP7A)	ENSP00000493605.1:n.*2198_*2199del
ENST00000341514.10:c.2284_2285del (ATP7A)	ENSP00000345728.6:p.Leu762AspfsTer9
ENST00000343533.9:c.2172+1316_2172+1317del (ATP7A)	ENSP00000343026.5:n.2172+1316_2172+1317del
ENST00000350425.5:c.*1457_*1458del (ATP7A)	ENSP00000343678.5:n.*1457_*1458del
NM_000052.6:c.2284_2285del (ATP7A)	NP_000043.4:p.Leu762AspfsTer9
NM_001282224.1:c.2172+1316_2172+1317del (ATP7A)	NP_001269153.1:n.2172+1316_2172+1317del
NR_104109.1:n.322-18410_322-18409del (ATP7A)
NM_000052.7:c.2284_2285del (ATP7A) MANE Select	NP_000043.4:p.Leu762AspfsTer9
NR_104109.2:n.285-18410_285-18409del (ATP7A)
NM_001282224.2:c.2172+1316_2172+1317del (ATP7A)	NP_001269153.1:n.2172+1316_2172+1317del