Canonical Allele Identifier: CA2439101116

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78013126_78013129delinsGGGT , CM000685.2:g.78013126_78013129delinsGGGT	GRCh38
NC_000023.10:g.77268623_77268626delinsGGGT , CM000685.1:g.77268623_77268626delinsGGGT	GRCh37
NC_000023.9:g.77155279_77155282delinsGGGT	NCBI36
NG_013224.2:g.107430_107433delinsGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2436+14_2436+17delinsGGGT (ATP7A)	ENSP00000343026.6:n.2436+14_2436+17delinsGGGT
ENST00000682475.1:n.823+1452_823+1455delinsGGGT (ATP7A)
ENST00000685264.1:c.2406+14_2406+17delinsGGGT (ATP7A)	ENSP00000510136.1:n.2406+14_2406+17delinsGGGT
ENST00000686033.1:c.2406+14_2406+17delinsGGGT (ATP7A)	ENSP00000510693.1:n.2406+14_2406+17delinsGGGT
ENST00000686133.1:c.2406+14_2406+17delinsGGGT (ATP7A)	ENSP00000509233.1:n.2406+14_2406+17delinsGGGT
ENST00000686255.1:n.1437+14_1437+17delinsGGGT (ATP7A)
ENST00000686480.1:c.2172+1452_2172+1455delinsGGGT (ATP7A)	ENSP00000508978.1:n.2172+1452_2172+1455delinsGGGT
ENST00000686543.1:c.2172+1452_2172+1455delinsGGGT (ATP7A)	ENSP00000509477.1:n.2172+1452_2172+1455delinsGGGT
ENST00000686688.1:c.2406+14_2406+17delinsGGGT (ATP7A)	ENSP00000509416.1:n.2406+14_2406+17delinsGGGT
ENST00000687086.1:c.2406+14_2406+17delinsGGGT (ATP7A)	ENSP00000509566.1:n.2406+14_2406+17delinsGGGT
ENST00000688746.1:n.3776_3779delinsGGGT (ATP7A)
ENST00000689514.1:n.448+14_448+17delinsGGGT (ATP7A)
ENST00000689530.1:c.2406+14_2406+17delinsGGGT (ATP7A)	ENSP00000509707.1:n.2406+14_2406+17delinsGGGT
ENST00000689649.1:c.2406+14_2406+17delinsGGGT (ATP7A)	ENSP00000509277.1:n.2406+14_2406+17delinsGGGT
ENST00000689767.1:c.2499+14_2499+17delinsGGGT (ATP7A)	ENSP00000509406.1:n.2499+14_2499+17delinsGGGT
ENST00000689872.1:c.*355+14_*355+17delinsGGGT (ATP7A)	ENSP00000509373.1:n.*355+14_*355+17delinsGGGT
ENST00000692908.1:c.2172+1452_2172+1455delinsGGGT (ATP7A)	ENSP00000508627.1:n.2172+1452_2172+1455delinsGGGT
ENST00000693398.1:c.2406+14_2406+17delinsGGGT (ATP7A)	ENSP00000510089.1:n.2406+14_2406+17delinsGGGT
ENST00000341514.11:c.2406+14_2406+17delinsGGGT (ATP7A) MANE Select	ENSP00000345728.6:n.2406+14_2406+17delinsGGGT
ENST00000644362.1:c.-19-96741_-19-96738delinsGGGT (PGK1)	ENSP00000496140.1:n.-19-96741_-19-96738delinsGGGT
ENST00000645094.1:c.*2320+14_*2320+17delinsGGGT (ATP7A)	ENSP00000493605.1:n.*2320+14_*2320+17delinsGGGT
ENST00000341514.10:c.2406+14_2406+17delinsGGGT (ATP7A)	ENSP00000345728.6:n.2406+14_2406+17delinsGGGT
ENST00000343533.9:c.2172+1452_2172+1455delinsGGGT (ATP7A)	ENSP00000343026.5:n.2172+1452_2172+1455delinsGGGT
ENST00000350425.5:c.*1579+14_*1579+17delinsGGGT (ATP7A)	ENSP00000343678.5:n.*1579+14_*1579+17delinsGGGT
NM_000052.6:c.2406+14_2406+17delinsGGGT (ATP7A)	NP_000043.4:n.2406+14_2406+17delinsGGGT
NM_001282224.1:c.2172+1452_2172+1455delinsGGGT (ATP7A)	NP_001269153.1:n.2172+1452_2172+1455delinsGGGT
NR_104109.1:n.322-18274_322-18271delinsGGGT (ATP7A)
NM_000052.7:c.2406+14_2406+17delinsGGGT (ATP7A) MANE Select	NP_000043.4:n.2406+14_2406+17delinsGGGT
NR_104109.2:n.285-18274_285-18271delinsGGGT (ATP7A)
NM_001282224.2:c.2172+1452_2172+1455delinsGGGT (ATP7A)	NP_001269153.1:n.2172+1452_2172+1455delinsGGGT