Canonical Allele Identifier: CA2694153214

Gene: ATP7A PGK1

Linked Data

• gnomAD v4: X-78013264-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78013264_78013265insTG , CM000685.2:g.78013264_78013265insTG	GRCh38
NC_000023.10:g.77268761_77268762insTG , CM000685.1:g.77268761_77268762insTG	GRCh37
NC_000023.9:g.77155417_77155418insTG	NCBI36
NG_013224.2:g.107568_107569insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2436+152_2436+153insTG (ATP7A)	ENSP00000343026.6:n.2436+152_2436+153insTG
ENST00000682475.1:n.824-1398_824-1397insTG (ATP7A)
ENST00000685264.1:c.2406+152_2406+153insTG (ATP7A)	ENSP00000510136.1:n.2406+152_2406+153insTG
ENST00000686033.1:c.2406+152_2406+153insTG (ATP7A)	ENSP00000510693.1:n.2406+152_2406+153insTG
ENST00000686133.1:c.2406+152_2406+153insTG (ATP7A)	ENSP00000509233.1:n.2406+152_2406+153insTG
ENST00000686255.1:n.1437+152_1437+153insTG (ATP7A)
ENST00000686480.1:c.2173-1398_2173-1397insTG (ATP7A)	ENSP00000508978.1:n.2173-1398_2173-1397insTG
ENST00000686543.1:c.2173-1398_2173-1397insTG (ATP7A)	ENSP00000509477.1:n.2173-1398_2173-1397insTG
ENST00000686688.1:c.2406+152_2406+153insTG (ATP7A)	ENSP00000509416.1:n.2406+152_2406+153insTG
ENST00000687086.1:c.2406+152_2406+153insTG (ATP7A)	ENSP00000509566.1:n.2406+152_2406+153insTG
ENST00000688746.1:n.3914_3915insTG (ATP7A)
ENST00000689514.1:n.448+152_448+153insTG (ATP7A)
ENST00000689530.1:c.2406+152_2406+153insTG (ATP7A)	ENSP00000509707.1:n.2406+152_2406+153insTG
ENST00000689649.1:c.2406+152_2406+153insTG (ATP7A)	ENSP00000509277.1:n.2406+152_2406+153insTG
ENST00000689767.1:c.2499+152_2499+153insTG (ATP7A)	ENSP00000509406.1:n.2499+152_2499+153insTG
ENST00000689872.1:c.*355+152_*355+153insTG (ATP7A)	ENSP00000509373.1:n.*355+152_*355+153insTG
ENST00000692908.1:c.2173-1398_2173-1397insTG (ATP7A)	ENSP00000508627.1:n.2173-1398_2173-1397insTG
ENST00000693398.1:c.2406+152_2406+153insTG (ATP7A)	ENSP00000510089.1:n.2406+152_2406+153insTG
ENST00000341514.11:c.2406+152_2406+153insTG (ATP7A) MANE Select	ENSP00000345728.6:n.2406+152_2406+153insTG
ENST00000644362.1:c.-19-96603_-19-96602insTG (PGK1)	ENSP00000496140.1:n.-19-96603_-19-96602insTG
ENST00000645094.1:c.*2320+152_*2320+153insTG (ATP7A)	ENSP00000493605.1:n.*2320+152_*2320+153insTG
ENST00000341514.10:c.2406+152_2406+153insTG (ATP7A)	ENSP00000345728.6:n.2406+152_2406+153insTG
ENST00000343533.9:c.2173-1398_2173-1397insTG (ATP7A)	ENSP00000343026.5:n.2173-1398_2173-1397insTG
ENST00000350425.5:c.*1579+152_*1579+153insTG (ATP7A)	ENSP00000343678.5:n.*1579+152_*1579+153insTG
NM_000052.6:c.2406+152_2406+153insTG (ATP7A)	NP_000043.4:n.2406+152_2406+153insTG
NM_001282224.1:c.2173-1398_2173-1397insTG (ATP7A)	NP_001269153.1:n.2173-1398_2173-1397insTG
NR_104109.1:n.322-18136_322-18135insTG (ATP7A)
NM_000052.7:c.2406+152_2406+153insTG (ATP7A) MANE Select	NP_000043.4:n.2406+152_2406+153insTG
NR_104109.2:n.285-18136_285-18135insTG (ATP7A)
NM_001282224.2:c.2173-1398_2173-1397insTG (ATP7A)	NP_001269153.1:n.2173-1398_2173-1397insTG