Canonical Allele Identifier: CA2439100546

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1625250
• ClinVar RCV Id: RCV002106706
• dbSNP Id: rs2077824641
• gnomAD v4: X-78011430-TTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011433_78011435del , CM000685.2:g.78011433_78011435del	GRCh38
NC_000023.10:g.77266930_77266932del , CM000685.1:g.77266930_77266932del	GRCh37
NC_000023.9:g.77153586_77153588del	NCBI36
NG_013224.2:g.105737_105739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1977-16_1977-14del (ATP7A)	ENSP00000343026.6:n.1977-16_1977-14del
ENST00000682475.1:n.582_584del (ATP7A)
ENST00000685264.1:c.1947-16_1947-14del (ATP7A)	ENSP00000510136.1:n.1947-16_1947-14del
ENST00000686033.1:c.1947-16_1947-14del (ATP7A)	ENSP00000510693.1:n.1947-16_1947-14del
ENST00000686133.1:c.1947-16_1947-14del (ATP7A)	ENSP00000509233.1:n.1947-16_1947-14del
ENST00000686255.1:n.962_964del (ATP7A)
ENST00000686480.1:c.1947-16_1947-14del (ATP7A)	ENSP00000508978.1:n.1947-16_1947-14del
ENST00000686515.1:n.2087-16_2087-14del (ATP7A)
ENST00000686543.1:c.1947-16_1947-14del (ATP7A)	ENSP00000509477.1:n.1947-16_1947-14del
ENST00000686688.1:c.1947-16_1947-14del (ATP7A)	ENSP00000509416.1:n.1947-16_1947-14del
ENST00000686999.1:n.2258-16_2258-14del (ATP7A)
ENST00000687086.1:c.1947-16_1947-14del (ATP7A)	ENSP00000509566.1:n.1947-16_1947-14del
ENST00000687628.1:n.4140_4142del (ATP7A)
ENST00000688746.1:n.2099-16_2099-14del (ATP7A)
ENST00000689530.1:c.1947-16_1947-14del (ATP7A)	ENSP00000509707.1:n.1947-16_1947-14del
ENST00000689649.1:c.1947-16_1947-14del (ATP7A)	ENSP00000509277.1:n.1947-16_1947-14del
ENST00000689767.1:c.2040-16_2040-14del (ATP7A)	ENSP00000509406.1:n.2040-16_2040-14del
ENST00000689872.1:c.1870-16_1870-14del (ATP7A)	ENSP00000509373.1:n.1870-16_1870-14del
ENST00000692110.1:c.1863-16_1863-14del (ATP7A)	ENSP00000509366.1:n.1863-16_1863-14del
ENST00000692908.1:c.1947-16_1947-14del (ATP7A)	ENSP00000508627.1:n.1947-16_1947-14del
ENST00000693398.1:c.1947-16_1947-14del (ATP7A)	ENSP00000510089.1:n.1947-16_1947-14del
ENST00000341514.11:c.1947-16_1947-14del (ATP7A) MANE Select	ENSP00000345728.6:n.1947-16_1947-14del
ENST00000644362.1:c.-19-98434_-19-98432del (PGK1)	ENSP00000496140.1:n.-19-98434_-19-98432del
ENST00000645094.1:c.*1861-16_*1861-14del (ATP7A)	ENSP00000493605.1:n.*1861-16_*1861-14del
ENST00000341514.10:c.1947-16_1947-14del (ATP7A)	ENSP00000345728.6:n.1947-16_1947-14del
ENST00000343533.9:c.1947-16_1947-14del (ATP7A)	ENSP00000343026.5:n.1947-16_1947-14del
ENST00000350425.5:c.*1120-16_*1120-14del (ATP7A)	ENSP00000343678.5:n.*1120-16_*1120-14del
NM_000052.6:c.1947-16_1947-14del (ATP7A)	NP_000043.4:n.1947-16_1947-14del
NM_001282224.1:c.1947-16_1947-14del (ATP7A)	NP_001269153.1:n.1947-16_1947-14del
NR_104109.1:n.322-19967_322-19965del (ATP7A)
NM_000052.7:c.1947-16_1947-14del (ATP7A) MANE Select	NP_000043.4:n.1947-16_1947-14del
NR_104109.2:n.285-19967_285-19965del (ATP7A)
NM_001282224.2:c.1947-16_1947-14del (ATP7A)	NP_001269153.1:n.1947-16_1947-14del