Canonical Allele Identifier: CA2580612289

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 2571563
• ClinVar RCV Id: RCV003312963

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78013043_78013056del , CM000685.2:g.78013043_78013056del	GRCh38
NC_000023.10:g.77268540_77268553del , CM000685.1:g.77268540_77268553del	GRCh37
NC_000023.9:g.77155196_77155209del	NCBI36
NG_013224.2:g.107347_107360del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2367_2380del (ATP7A)	ENSP00000343026.6:p.Phe790ProfsTer?
ENST00000682475.1:n.823+1369_823+1382del (ATP7A)
ENST00000685264.1:c.2337_2350del (ATP7A)	ENSP00000510136.1:p.Phe780ProfsTer?
ENST00000686033.1:c.2337_2350del (ATP7A)	ENSP00000510693.1:p.Phe780ProfsTer?
ENST00000686133.1:c.2337_2350del (ATP7A)	ENSP00000509233.1:p.Phe780ProfsTer?
ENST00000686255.1:n.1368_1381del (ATP7A)
ENST00000686480.1:c.2172+1369_2172+1382del (ATP7A)	ENSP00000508978.1:n.2172+1369_2172+1382del
ENST00000686543.1:c.2172+1369_2172+1382del (ATP7A)	ENSP00000509477.1:n.2172+1369_2172+1382del
ENST00000686688.1:c.2337_2350del (ATP7A)	ENSP00000509416.1:p.Phe780ProfsTer?
ENST00000687086.1:c.2337_2350del (ATP7A)	ENSP00000509566.1:p.Phe780ProfsTer?
ENST00000688746.1:n.3693_3706del (ATP7A)
ENST00000689514.1:n.379_392del (ATP7A)
ENST00000689530.1:c.2337_2350del (ATP7A)	ENSP00000509707.1:p.Phe780ProfsTer?
ENST00000689649.1:c.2337_2350del (ATP7A)	ENSP00000509277.1:p.Phe780ProfsTer?
ENST00000689767.1:c.2430_2443del (ATP7A)	ENSP00000509406.1:p.Phe811ProfsTer?
ENST00000689872.1:c.*286_*299del (ATP7A)	ENSP00000509373.1:n.*286_*299del
ENST00000692908.1:c.2172+1369_2172+1382del (ATP7A)	ENSP00000508627.1:n.2172+1369_2172+1382del
ENST00000693398.1:c.2337_2350del (ATP7A)	ENSP00000510089.1:p.Phe780ProfsTer?
ENST00000341514.11:c.2337_2350del (ATP7A) MANE Select	ENSP00000345728.6:p.Phe780ProfsTer?
ENST00000644362.1:c.-19-96824_-19-96811del (PGK1)	ENSP00000496140.1:n.-19-96824_-19-96811del
ENST00000645094.1:c.*2251_*2264del (ATP7A)	ENSP00000493605.1:n.*2251_*2264del
ENST00000341514.10:c.2337_2350del (ATP7A)	ENSP00000345728.6:p.Phe780ProfsTer?
ENST00000343533.9:c.2172+1369_2172+1382del (ATP7A)	ENSP00000343026.5:n.2172+1369_2172+1382del
ENST00000350425.5:c.*1510_*1523del (ATP7A)	ENSP00000343678.5:n.*1510_*1523del
NM_000052.6:c.2337_2350del (ATP7A)	NP_000043.4:p.Phe780ProfsTer?
NM_001282224.1:c.2172+1369_2172+1382del (ATP7A)	NP_001269153.1:n.2172+1369_2172+1382del
NR_104109.1:n.322-18357_322-18344del (ATP7A)
NM_000052.7:c.2337_2350del (ATP7A) MANE Select	NP_000043.4:p.Phe780ProfsTer?
NR_104109.2:n.285-18357_285-18344del (ATP7A)
NM_001282224.2:c.2172+1369_2172+1382del (ATP7A)	NP_001269153.1:n.2172+1369_2172+1382del