Canonical Allele Identifier: CA2580612280

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 2571556
• ClinVar RCV Id: RCV003312956

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011679_78011693del , CM000685.2:g.78011679_78011693del	GRCh38
NC_000023.10:g.77267176_77267190del , CM000685.1:g.77267176_77267190del	GRCh37
NC_000023.9:g.77153832_77153846del	NCBI36
NG_013224.2:g.105983_105997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2202+5_2202+19del (ATP7A)	ENSP00000343026.6:n.2202+5_2202+19del
ENST00000682475.1:n.823+5_823+19del (ATP7A)
ENST00000685264.1:c.2172+5_2172+19del (ATP7A)	ENSP00000510136.1:n.2172+5_2172+19del
ENST00000686033.1:c.2172+5_2172+19del (ATP7A)	ENSP00000510693.1:n.2172+5_2172+19del
ENST00000686133.1:c.2172+5_2172+19del (ATP7A)	ENSP00000509233.1:n.2172+5_2172+19del
ENST00000686255.1:n.1203+5_1203+19del (ATP7A)
ENST00000686480.1:c.2172+5_2172+19del (ATP7A)	ENSP00000508978.1:n.2172+5_2172+19del
ENST00000686515.1:n.2312+5_2312+19del (ATP7A)
ENST00000686543.1:c.2172+5_2172+19del (ATP7A)	ENSP00000509477.1:n.2172+5_2172+19del
ENST00000686688.1:c.2172+5_2172+19del (ATP7A)	ENSP00000509416.1:n.2172+5_2172+19del
ENST00000686999.1:n.2488_2502del (ATP7A)
ENST00000687086.1:c.2172+5_2172+19del (ATP7A)	ENSP00000509566.1:n.2172+5_2172+19del
ENST00000687628.1:n.4386_4400del (ATP7A)
ENST00000688746.1:n.2329_2343del (ATP7A)
ENST00000689514.1:n.214+5_214+19del (ATP7A)
ENST00000689530.1:c.2172+5_2172+19del (ATP7A)	ENSP00000509707.1:n.2172+5_2172+19del
ENST00000689649.1:c.2172+5_2172+19del (ATP7A)	ENSP00000509277.1:n.2172+5_2172+19del
ENST00000689767.1:c.2265+5_2265+19del (ATP7A)	ENSP00000509406.1:n.2265+5_2265+19del
ENST00000689872.1:c.*121+5_*121+19del (ATP7A)	ENSP00000509373.1:n.*121+5_*121+19del
ENST00000692908.1:c.2172+5_2172+19del (ATP7A)	ENSP00000508627.1:n.2172+5_2172+19del
ENST00000693398.1:c.2172+5_2172+19del (ATP7A)	ENSP00000510089.1:n.2172+5_2172+19del
ENST00000341514.11:c.2172+5_2172+19del (ATP7A) MANE Select	ENSP00000345728.6:n.2172+5_2172+19del
ENST00000644362.1:c.-19-98188_-19-98174del (PGK1)	ENSP00000496140.1:n.-19-98188_-19-98174del
ENST00000645094.1:c.*2086+5_*2086+19del (ATP7A)	ENSP00000493605.1:n.*2086+5_*2086+19del
ENST00000341514.10:c.2172+5_2172+19del (ATP7A)	ENSP00000345728.6:n.2172+5_2172+19del
ENST00000343533.9:c.2172+5_2172+19del (ATP7A)	ENSP00000343026.5:n.2172+5_2172+19del
ENST00000350425.5:c.*1345+5_*1345+19del (ATP7A)	ENSP00000343678.5:n.*1345+5_*1345+19del
NM_000052.6:c.2172+5_2172+19del (ATP7A)	NP_000043.4:n.2172+5_2172+19del
NM_001282224.1:c.2172+5_2172+19del (ATP7A)	NP_001269153.1:n.2172+5_2172+19del
NR_104109.1:n.322-19721_322-19707del (ATP7A)
NM_000052.7:c.2172+5_2172+19del (ATP7A) MANE Select	NP_000043.4:n.2172+5_2172+19del
NR_104109.2:n.285-19721_285-19707del (ATP7A)
NM_001282224.2:c.2172+5_2172+19del (ATP7A)	NP_001269153.1:n.2172+5_2172+19del