Canonical Allele Identifier: CA2439101080

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78013007_78013008delinsTG , CM000685.2:g.78013007_78013008delinsTG	GRCh38
NC_000023.10:g.77268504_77268505delinsTG , CM000685.1:g.77268504_77268505delinsTG	GRCh37
NC_000023.9:g.77155160_77155161delinsTG	NCBI36
NG_013224.2:g.107311_107312delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2331_2332delinsTG (ATP7A)	ENSP00000343026.6:p.Val777=
ENST00000682475.1:n.823+1333_823+1334delinsTG (ATP7A)
ENST00000685264.1:c.2301_2302delinsTG (ATP7A)	ENSP00000510136.1:p.Val767=
ENST00000686033.1:c.2301_2302delinsTG (ATP7A)	ENSP00000510693.1:p.Val767=
ENST00000686133.1:c.2301_2302delinsTG (ATP7A)	ENSP00000509233.1:p.Val767=
ENST00000686255.1:n.1332_1333delinsTG (ATP7A)
ENST00000686480.1:c.2172+1333_2172+1334delinsTG (ATP7A)	ENSP00000508978.1:n.2172+1333_2172+1334delinsTG
ENST00000686543.1:c.2172+1333_2172+1334delinsTG (ATP7A)	ENSP00000509477.1:n.2172+1333_2172+1334delinsTG
ENST00000686688.1:c.2301_2302delinsTG (ATP7A)	ENSP00000509416.1:p.Val767=
ENST00000687086.1:c.2301_2302delinsTG (ATP7A)	ENSP00000509566.1:p.Val767=
ENST00000688746.1:n.3657_3658delinsTG (ATP7A)
ENST00000689514.1:n.343_344delinsTG (ATP7A)
ENST00000689530.1:c.2301_2302delinsTG (ATP7A)	ENSP00000509707.1:p.Val767=
ENST00000689649.1:c.2301_2302delinsTG (ATP7A)	ENSP00000509277.1:p.Val767=
ENST00000689767.1:c.2394_2395delinsTG (ATP7A)	ENSP00000509406.1:p.Val798=
ENST00000689872.1:c.*250_*251delinsTG (ATP7A)	ENSP00000509373.1:n.*250_*251delinsTG
ENST00000692908.1:c.2172+1333_2172+1334delinsTG (ATP7A)	ENSP00000508627.1:n.2172+1333_2172+1334delinsTG
ENST00000693398.1:c.2301_2302delinsTG (ATP7A)	ENSP00000510089.1:p.Val767=
ENST00000341514.11:c.2301_2302delinsTG (ATP7A) MANE Select	ENSP00000345728.6:p.Val767=
ENST00000644362.1:c.-19-96860_-19-96859delinsTG (PGK1)	ENSP00000496140.1:n.-19-96860_-19-96859delinsTG
ENST00000645094.1:c.*2215_*2216delinsTG (ATP7A)	ENSP00000493605.1:n.*2215_*2216delinsTG
ENST00000341514.10:c.2301_2302delinsTG (ATP7A)	ENSP00000345728.6:p.Val767=
ENST00000343533.9:c.2172+1333_2172+1334delinsTG (ATP7A)	ENSP00000343026.5:n.2172+1333_2172+1334delinsTG
ENST00000350425.5:c.*1474_*1475delinsTG (ATP7A)	ENSP00000343678.5:n.*1474_*1475delinsTG
NM_000052.6:c.2301_2302delinsTG (ATP7A)	NP_000043.4:p.Val767=
NM_001282224.1:c.2172+1333_2172+1334delinsTG (ATP7A)	NP_001269153.1:n.2172+1333_2172+1334delinsTG
NR_104109.1:n.322-18393_322-18392delinsTG (ATP7A)
NM_000052.7:c.2301_2302delinsTG (ATP7A) MANE Select	NP_000043.4:p.Val767=
NR_104109.2:n.285-18393_285-18392delinsTG (ATP7A)
NM_001282224.2:c.2172+1333_2172+1334delinsTG (ATP7A)	NP_001269153.1:n.2172+1333_2172+1334delinsTG