Canonical Allele Identifier: CA2841082817

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77998718_77998719insAG , CM000685.2:g.77998718_77998719insAG	GRCh38
NC_000023.10:g.77254215_77254216insAG , CM000685.1:g.77254215_77254216insAG	GRCh37
NC_000023.9:g.77140871_77140872insAG	NCBI36
NG_013224.2:g.93022_93023insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1573+34_1573+35insAG (ATP7A)	ENSP00000343026.6:n.1573+34_1573+35insAG
ENST00000682742.2:n.1705+34_1705+35insAG (ATP7A)
ENST00000685264.1:c.1543+34_1543+35insAG (ATP7A)	ENSP00000510136.1:n.1543+34_1543+35insAG
ENST00000685434.1:n.1577+34_1577+35insAG (ATP7A)
ENST00000686033.1:c.1543+34_1543+35insAG (ATP7A)	ENSP00000510693.1:n.1543+34_1543+35insAG
ENST00000686133.1:c.1543+34_1543+35insAG (ATP7A)	ENSP00000509233.1:n.1543+34_1543+35insAG
ENST00000686416.1:n.1897+34_1897+35insAG (ATP7A)
ENST00000686480.1:c.1543+34_1543+35insAG (ATP7A)	ENSP00000508978.1:n.1543+34_1543+35insAG
ENST00000686515.1:n.1683+34_1683+35insAG (ATP7A)
ENST00000686543.1:c.1543+34_1543+35insAG (ATP7A)	ENSP00000509477.1:n.1543+34_1543+35insAG
ENST00000686688.1:c.1543+34_1543+35insAG (ATP7A)	ENSP00000509416.1:n.1543+34_1543+35insAG
ENST00000686999.1:n.1854+34_1854+35insAG (ATP7A)
ENST00000687086.1:c.1543+34_1543+35insAG (ATP7A)	ENSP00000509566.1:n.1543+34_1543+35insAG
ENST00000687416.1:c.1543+34_1543+35insAG (ATP7A)	ENSP00000510310.1:n.1543+34_1543+35insAG
ENST00000687628.1:n.1644+34_1644+35insAG (ATP7A)
ENST00000688249.1:c.1543+34_1543+35insAG (ATP7A)	ENSP00000510644.1:n.1543+34_1543+35insAG
ENST00000688338.1:c.1543+34_1543+35insAG (ATP7A)	ENSP00000508672.1:n.1543+34_1543+35insAG
ENST00000688746.1:n.1695+34_1695+35insAG (ATP7A)
ENST00000689530.1:c.1543+34_1543+35insAG (ATP7A)	ENSP00000509707.1:n.1543+34_1543+35insAG
ENST00000689541.1:n.1852+34_1852+35insAG (ATP7A)
ENST00000689649.1:c.1543+34_1543+35insAG (ATP7A)	ENSP00000509277.1:n.1543+34_1543+35insAG
ENST00000689767.1:c.1543+34_1543+35insAG (ATP7A)	ENSP00000509406.1:n.1543+34_1543+35insAG
ENST00000689872.1:c.1543+34_1543+35insAG (ATP7A)	ENSP00000509373.1:n.1543+34_1543+35insAG
ENST00000691456.1:n.1868_1869insAG (ATP7A)
ENST00000692110.1:c.1459+34_1459+35insAG (ATP7A)	ENSP00000509366.1:n.1459+34_1459+35insAG
ENST00000692908.1:c.1543+34_1543+35insAG (ATP7A)	ENSP00000508627.1:n.1543+34_1543+35insAG
ENST00000693051.1:c.1543+34_1543+35insAG (ATP7A)	ENSP00000510332.1:n.1543+34_1543+35insAG
ENST00000693387.1:c.*1472+34_*1472+35insAG (ATP7A)	ENSP00000508732.1:n.*1472+34_*1472+35insAG
ENST00000693398.1:c.1543+34_1543+35insAG (ATP7A)	ENSP00000510089.1:n.1543+34_1543+35insAG
ENST00000341514.11:c.1543+34_1543+35insAG (ATP7A) MANE Select	ENSP00000345728.6:n.1543+34_1543+35insAG
ENST00000644362.1:c.-20+87883_-20+87884insAG (PGK1)	ENSP00000496140.1:n.-20+87883_-20+87884insAG
ENST00000645094.1:c.*1457+34_*1457+35insAG (ATP7A)	ENSP00000493605.1:n.*1457+34_*1457+35insAG
ENST00000341514.10:c.1543+34_1543+35insAG (ATP7A)	ENSP00000345728.6:n.1543+34_1543+35insAG
ENST00000343533.9:c.1543+34_1543+35insAG (ATP7A)	ENSP00000343026.5:n.1543+34_1543+35insAG
ENST00000350425.5:c.*716+34_*716+35insAG (ATP7A)	ENSP00000343678.5:n.*716+34_*716+35insAG
NM_000052.6:c.1543+34_1543+35insAG (ATP7A)	NP_000043.4:n.1543+34_1543+35insAG
NM_001282224.1:c.1543+34_1543+35insAG (ATP7A)	NP_001269153.1:n.1543+34_1543+35insAG
NR_104109.1:n.321+26957_321+26958insAG (ATP7A)
NM_000052.7:c.1543+34_1543+35insAG (ATP7A) MANE Select	NP_000043.4:n.1543+34_1543+35insAG
NR_104109.2:n.284+26957_284+26958insAG (ATP7A)
NM_001282224.2:c.1543+34_1543+35insAG (ATP7A)	NP_001269153.1:n.1543+34_1543+35insAG