Canonical Allele Identifier: CA2694153172

Gene: ATP7A PGK1

Linked Data

• gnomAD v4: X-78013169-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78013174_78013175del , CM000685.2:g.78013174_78013175del	GRCh38
NC_000023.10:g.77268671_77268672del , CM000685.1:g.77268671_77268672del	GRCh37
NC_000023.9:g.77155327_77155328del	NCBI36
NG_013224.2:g.107478_107479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2436+62_2436+63del (ATP7A)	ENSP00000343026.6:n.2436+62_2436+63del
ENST00000682475.1:n.824-1488_824-1487del (ATP7A)
ENST00000685264.1:c.2406+62_2406+63del (ATP7A)	ENSP00000510136.1:n.2406+62_2406+63del
ENST00000686033.1:c.2406+62_2406+63del (ATP7A)	ENSP00000510693.1:n.2406+62_2406+63del
ENST00000686133.1:c.2406+62_2406+63del (ATP7A)	ENSP00000509233.1:n.2406+62_2406+63del
ENST00000686255.1:n.1437+62_1437+63del (ATP7A)
ENST00000686480.1:c.2173-1488_2173-1487del (ATP7A)	ENSP00000508978.1:n.2173-1488_2173-1487del
ENST00000686543.1:c.2173-1488_2173-1487del (ATP7A)	ENSP00000509477.1:n.2173-1488_2173-1487del
ENST00000686688.1:c.2406+62_2406+63del (ATP7A)	ENSP00000509416.1:n.2406+62_2406+63del
ENST00000687086.1:c.2406+62_2406+63del (ATP7A)	ENSP00000509566.1:n.2406+62_2406+63del
ENST00000688746.1:n.3824_3825del (ATP7A)
ENST00000689514.1:n.448+62_448+63del (ATP7A)
ENST00000689530.1:c.2406+62_2406+63del (ATP7A)	ENSP00000509707.1:n.2406+62_2406+63del
ENST00000689649.1:c.2406+62_2406+63del (ATP7A)	ENSP00000509277.1:n.2406+62_2406+63del
ENST00000689767.1:c.2499+62_2499+63del (ATP7A)	ENSP00000509406.1:n.2499+62_2499+63del
ENST00000689872.1:c.*355+62_*355+63del (ATP7A)	ENSP00000509373.1:n.*355+62_*355+63del
ENST00000692908.1:c.2173-1488_2173-1487del (ATP7A)	ENSP00000508627.1:n.2173-1488_2173-1487del
ENST00000693398.1:c.2406+62_2406+63del (ATP7A)	ENSP00000510089.1:n.2406+62_2406+63del
ENST00000341514.11:c.2406+62_2406+63del (ATP7A) MANE Select	ENSP00000345728.6:n.2406+62_2406+63del
ENST00000644362.1:c.-19-96693_-19-96692del (PGK1)	ENSP00000496140.1:n.-19-96693_-19-96692del
ENST00000645094.1:c.*2320+62_*2320+63del (ATP7A)	ENSP00000493605.1:n.*2320+62_*2320+63del
ENST00000341514.10:c.2406+62_2406+63del (ATP7A)	ENSP00000345728.6:n.2406+62_2406+63del
ENST00000343533.9:c.2173-1488_2173-1487del (ATP7A)	ENSP00000343026.5:n.2173-1488_2173-1487del
ENST00000350425.5:c.*1579+62_*1579+63del (ATP7A)	ENSP00000343678.5:n.*1579+62_*1579+63del
NM_000052.6:c.2406+62_2406+63del (ATP7A)	NP_000043.4:n.2406+62_2406+63del
NM_001282224.1:c.2173-1488_2173-1487del (ATP7A)	NP_001269153.1:n.2173-1488_2173-1487del
NR_104109.1:n.322-18226_322-18225del (ATP7A)
NM_000052.7:c.2406+62_2406+63del (ATP7A) MANE Select	NP_000043.4:n.2406+62_2406+63del
NR_104109.2:n.285-18226_285-18225del (ATP7A)
NM_001282224.2:c.2173-1488_2173-1487del (ATP7A)	NP_001269153.1:n.2173-1488_2173-1487del