Canonical Allele Identifier: CA2580101500

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1724917
• ClinVar RCV Id: RCV002307976

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011666_78011669del , CM000685.2:g.78011666_78011669del	GRCh38
NC_000023.10:g.77267163_77267166del , CM000685.1:g.77267163_77267166del	GRCh37
NC_000023.9:g.77153819_77153822del	NCBI36
NG_013224.2:g.105970_105973del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2194_2197del (ATP7A)	ENSP00000343026.6:p.Pro732TyrfsTer17
ENST00000682475.1:n.815_818del (ATP7A)
ENST00000685264.1:c.2164_2167del (ATP7A)	ENSP00000510136.1:p.Pro722TyrfsTer17
ENST00000686033.1:c.2164_2167del (ATP7A)	ENSP00000510693.1:p.Pro722TyrfsTer17
ENST00000686133.1:c.2164_2167del (ATP7A)	ENSP00000509233.1:p.Pro722TyrfsTer17
ENST00000686255.1:n.1195_1198del (ATP7A)
ENST00000686480.1:c.2164_2167del (ATP7A)	ENSP00000508978.1:p.Pro722TyrfsTer12
ENST00000686515.1:n.2304_2307del (ATP7A)
ENST00000686543.1:c.2164_2167del (ATP7A)	ENSP00000509477.1:p.Pro722TyrfsTer12
ENST00000686688.1:c.2164_2167del (ATP7A)	ENSP00000509416.1:p.Pro722TyrfsTer17
ENST00000686999.1:n.2475_2478del (ATP7A)
ENST00000687086.1:c.2164_2167del (ATP7A)	ENSP00000509566.1:p.Pro722TyrfsTer17
ENST00000687628.1:n.4373_4376del (ATP7A)
ENST00000688746.1:n.2316_2319del (ATP7A)
ENST00000689514.1:n.206_209del (ATP7A)
ENST00000689530.1:c.2164_2167del (ATP7A)	ENSP00000509707.1:p.Pro722TyrfsTer17
ENST00000689649.1:c.2164_2167del (ATP7A)	ENSP00000509277.1:p.Pro722TyrfsTer17
ENST00000689767.1:c.2257_2260del (ATP7A)	ENSP00000509406.1:p.Pro753TyrfsTer17
ENST00000689872.1:c.*113_*116del (ATP7A)	ENSP00000509373.1:n.*113_*116del
ENST00000692110.1:c.2080_2083del (ATP7A)	ENSP00000509366.1:p.Pro694TyrfsTer?
ENST00000692908.1:c.2164_2167del (ATP7A)	ENSP00000508627.1:p.Pro722TyrfsTer12
ENST00000693398.1:c.2164_2167del (ATP7A)	ENSP00000510089.1:p.Pro722TyrfsTer17
ENST00000341514.11:c.2164_2167del (ATP7A) MANE Select	ENSP00000345728.6:p.Pro722TyrfsTer17
ENST00000644362.1:c.-19-98201_-19-98198del (PGK1)	ENSP00000496140.1:n.-19-98201_-19-98198del
ENST00000645094.1:c.*2078_*2081del (ATP7A)	ENSP00000493605.1:n.*2078_*2081del
ENST00000341514.10:c.2164_2167del (ATP7A)	ENSP00000345728.6:p.Pro722TyrfsTer17
ENST00000343533.9:c.2164_2167del (ATP7A)	ENSP00000343026.5:p.Pro722TyrfsTer12
ENST00000350425.5:c.*1337_*1340del (ATP7A)	ENSP00000343678.5:n.*1337_*1340del
NM_000052.6:c.2164_2167del (ATP7A)	NP_000043.4:p.Pro722TyrfsTer17
NM_001282224.1:c.2164_2167del (ATP7A)	NP_001269153.1:p.Pro722TyrfsTer12
NR_104109.1:n.322-19734_322-19731del (ATP7A)
NM_000052.7:c.2164_2167del (ATP7A) MANE Select	NP_000043.4:p.Pro722TyrfsTer17
NR_104109.2:n.285-19734_285-19731del (ATP7A)
NM_001282224.2:c.2164_2167del (ATP7A)	NP_001269153.1:p.Pro722TyrfsTer12