Canonical Allele Identifier: CA2439101183

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78013319_78013323delinsCTGTT , CM000685.2:g.78013319_78013323delinsCTGTT	GRCh38
NC_000023.10:g.77268816_77268820delinsCTGTT , CM000685.1:g.77268816_77268820delinsCTGTT	GRCh37
NC_000023.9:g.77155472_77155476delinsCTGTT	NCBI36
NG_013224.2:g.107623_107627delinsCTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2436+207_2436+211delinsCTGTT (ATP7A)	ENSP00000343026.6:n.2436+207_2436+211delinsCTGTT
ENST00000682475.1:n.824-1343_824-1339delinsCTGTT (ATP7A)
ENST00000685264.1:c.2406+207_2406+211delinsCTGTT (ATP7A)	ENSP00000510136.1:n.2406+207_2406+211delinsCTGTT
ENST00000686033.1:c.2406+207_2406+211delinsCTGTT (ATP7A)	ENSP00000510693.1:n.2406+207_2406+211delinsCTGTT
ENST00000686133.1:c.2406+207_2406+211delinsCTGTT (ATP7A)	ENSP00000509233.1:n.2406+207_2406+211delinsCTGTT
ENST00000686255.1:n.1437+207_1437+211delinsCTGTT (ATP7A)
ENST00000686480.1:c.2173-1343_2173-1339delinsCTGTT (ATP7A)	ENSP00000508978.1:n.2173-1343_2173-1339delinsCTGTT
ENST00000686543.1:c.2173-1343_2173-1339delinsCTGTT (ATP7A)	ENSP00000509477.1:n.2173-1343_2173-1339delinsCTGTT
ENST00000686688.1:c.2406+207_2406+211delinsCTGTT (ATP7A)	ENSP00000509416.1:n.2406+207_2406+211delinsCTGTT
ENST00000687086.1:c.2406+207_2406+211delinsCTGTT (ATP7A)	ENSP00000509566.1:n.2406+207_2406+211delinsCTGTT
ENST00000688746.1:n.3969_3973delinsCTGTT (ATP7A)
ENST00000689514.1:n.448+207_448+211delinsCTGTT (ATP7A)
ENST00000689530.1:c.2406+207_2406+211delinsCTGTT (ATP7A)	ENSP00000509707.1:n.2406+207_2406+211delinsCTGTT
ENST00000689649.1:c.2406+207_2406+211delinsCTGTT (ATP7A)	ENSP00000509277.1:n.2406+207_2406+211delinsCTGTT
ENST00000689767.1:c.2499+207_2499+211delinsCTGTT (ATP7A)	ENSP00000509406.1:n.2499+207_2499+211delinsCTGTT
ENST00000689872.1:c.*355+207_*355+211delinsCTGTT (ATP7A)	ENSP00000509373.1:n.*355+207_*355+211delinsCTGTT
ENST00000692908.1:c.2173-1343_2173-1339delinsCTGTT (ATP7A)	ENSP00000508627.1:n.2173-1343_2173-1339delinsCTGTT
ENST00000693398.1:c.2406+207_2406+211delinsCTGTT (ATP7A)	ENSP00000510089.1:n.2406+207_2406+211delinsCTGTT
ENST00000341514.11:c.2406+207_2406+211delinsCTGTT (ATP7A) MANE Select	ENSP00000345728.6:n.2406+207_2406+211delinsCTGTT
ENST00000644362.1:c.-19-96548_-19-96544delinsCTGTT (PGK1)	ENSP00000496140.1:n.-19-96548_-19-96544delinsCTGTT
ENST00000645094.1:c.*2320+207_*2320+211delinsCTGTT (ATP7A)	ENSP00000493605.1:n.*2320+207_*2320+211delinsCTGTT
ENST00000341514.10:c.2406+207_2406+211delinsCTGTT (ATP7A)	ENSP00000345728.6:n.2406+207_2406+211delinsCTGTT
ENST00000343533.9:c.2173-1343_2173-1339delinsCTGTT (ATP7A)	ENSP00000343026.5:n.2173-1343_2173-1339delinsCTGTT
ENST00000350425.5:c.*1579+207_*1579+211delinsCTGTT (ATP7A)	ENSP00000343678.5:n.*1579+207_*1579+211delinsCTGTT
NM_000052.6:c.2406+207_2406+211delinsCTGTT (ATP7A)	NP_000043.4:n.2406+207_2406+211delinsCTGTT
NM_001282224.1:c.2173-1343_2173-1339delinsCTGTT (ATP7A)	NP_001269153.1:n.2173-1343_2173-1339delinsCTGTT
NR_104109.1:n.322-18081_322-18077delinsCTGTT (ATP7A)
NM_000052.7:c.2406+207_2406+211delinsCTGTT (ATP7A) MANE Select	NP_000043.4:n.2406+207_2406+211delinsCTGTT
NR_104109.2:n.285-18081_285-18077delinsCTGTT (ATP7A)
NM_001282224.2:c.2173-1343_2173-1339delinsCTGTT (ATP7A)	NP_001269153.1:n.2173-1343_2173-1339delinsCTGTT