Canonical Allele Identifier: CA2821937337

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011769_78011770insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT , CM000685.2:g.78011769_78011770insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT	GRCh38
NC_000023.10:g.77267266_77267267insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT , CM000685.1:g.77267266_77267267insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT	GRCh37
NC_000023.9:g.77153922_77153923insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT	NCBI36
NG_013224.2:g.106073_106074insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2202+95_2202+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000343026.6:n.2202+95_2202+96insGGCCGGGCGCGGTGGCTCACGCC...
ENST00000682475.1:n.823+95_823+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)
ENST00000685264.1:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000510136.1:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCC...
ENST00000686033.1:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000510693.1:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCC...
ENST00000686133.1:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000509233.1:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCC...
ENST00000686255.1:n.1203+95_1203+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)
ENST00000686480.1:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000508978.1:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCC...
ENST00000686515.1:n.2312+95_2312+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)
ENST00000686543.1:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000509477.1:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCC...
ENST00000686688.1:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000509416.1:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCC...
ENST00000686999.1:n.2578_2579insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)
ENST00000687086.1:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000509566.1:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCC...
ENST00000687628.1:n.4476_4477insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)
ENST00000688746.1:n.2419_2420insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)
ENST00000689514.1:n.214+95_214+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)
ENST00000689530.1:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000509707.1:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCC...
ENST00000689649.1:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000509277.1:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCC...
ENST00000689767.1:c.2265+95_2265+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000509406.1:n.2265+95_2265+96insGGCCGGGCGCGGTGGCTCACGCC...
ENST00000689872.1:c.*121+95_*121+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000509373.1:n.*121+95_*121+96insGGCCGGGCGCGGTGGCTCACGCC...
ENST00000692908.1:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000508627.1:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCC...
ENST00000693398.1:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000510089.1:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCC...
ENST00000341514.11:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A) MANE Select	ENSP00000345728.6:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCC...
ENST00000644362.1:c.-19-98098_-19-98097insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (PGK1)	ENSP00000496140.1:n.-19-98098_-19-98097insGGCCGGGCGCGGTGGCTCA...
ENST00000645094.1:c.*2086+95_*2086+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000493605.1:n.*2086+95_*2086+96insGGCCGGGCGCGGTGGCTCACG...
ENST00000341514.10:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000345728.6:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCC...
ENST00000343533.9:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000343026.5:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCC...
ENST00000350425.5:c.*1345+95_*1345+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	ENSP00000343678.5:n.*1345+95_*1345+96insGGCCGGGCGCGGTGGCTCACG...
NM_000052.6:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	NP_000043.4:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAAT...
NM_001282224.1:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	NP_001269153.1:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGT...
NR_104109.1:n.322-19631_322-19630insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)
NM_000052.7:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A) MANE Select	NP_000043.4:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAAT...
NR_104109.2:n.285-19631_285-19630insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)
NM_001282224.2:c.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT (ATP7A)	NP_001269153.1:n.2172+95_2172+96insGGCCGGGCGCGGTGGCTCACGCCTGT...