Canonical Allele Identifier: CA2499226879

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1064448
• ClinVar RCV Id: RCV001374410
• dbSNP Id: rs2149094952

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011204_78011217del , CM000685.2:g.78011204_78011217del	GRCh38
NC_000023.10:g.77266701_77266714del , CM000685.1:g.77266701_77266714del	GRCh37
NC_000023.9:g.77153357_77153370del	NCBI36
NG_013224.2:g.105508_105521del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.1928_1941del (ATP7A)	ENSP00000343026.6:p.Lys643SerfsTer7
ENST00000682475.1:n.353_366del (ATP7A)
ENST00000685264.1:c.1898_1911del (ATP7A)	ENSP00000510136.1:p.Lys633SerfsTer7
ENST00000686033.1:c.1898_1911del (ATP7A)	ENSP00000510693.1:p.Lys633SerfsTer7
ENST00000686133.1:c.1898_1911del (ATP7A)	ENSP00000509233.1:p.Lys633SerfsTer7
ENST00000686255.1:n.733_746del (ATP7A)
ENST00000686480.1:c.1898_1911del (ATP7A)	ENSP00000508978.1:p.Lys633SerfsTer7
ENST00000686515.1:n.2038_2051del (ATP7A)
ENST00000686543.1:c.1898_1911del (ATP7A)	ENSP00000509477.1:p.Lys633SerfsTer7
ENST00000686688.1:c.1898_1911del (ATP7A)	ENSP00000509416.1:p.Lys633SerfsTer7
ENST00000686999.1:n.2209_2222del (ATP7A)
ENST00000687086.1:c.1898_1911del (ATP7A)	ENSP00000509566.1:p.Lys633SerfsTer7
ENST00000687628.1:n.3911_3924del (ATP7A)
ENST00000688746.1:n.2050_2063del (ATP7A)
ENST00000689530.1:c.1898_1911del (ATP7A)	ENSP00000509707.1:p.Lys633SerfsTer7
ENST00000689649.1:c.1898_1911del (ATP7A)	ENSP00000509277.1:p.Lys633SerfsTer7
ENST00000689767.1:c.1991_2004del (ATP7A)	ENSP00000509406.1:p.Lys664SerfsTer7
ENST00000689872.1:c.1870-245_1870-232del (ATP7A)	ENSP00000509373.1:n.1870-245_1870-232del
ENST00000692110.1:c.1814_1827del (ATP7A)	ENSP00000509366.1:p.Lys605SerfsTer7
ENST00000692908.1:c.1898_1911del (ATP7A)	ENSP00000508627.1:p.Lys633SerfsTer7
ENST00000693398.1:c.1898_1911del (ATP7A)	ENSP00000510089.1:p.Lys633SerfsTer7
ENST00000341514.11:c.1898_1911del (ATP7A) MANE Select	ENSP00000345728.6:p.Lys633SerfsTer7
ENST00000644362.1:c.-19-98663_-19-98650del (PGK1)	ENSP00000496140.1:n.-19-98663_-19-98650del
ENST00000645094.1:c.*1812_*1825del (ATP7A)	ENSP00000493605.1:n.*1812_*1825del
ENST00000341514.10:c.1898_1911del (ATP7A)	ENSP00000345728.6:p.Lys633SerfsTer7
ENST00000343533.9:c.1898_1911del (ATP7A)	ENSP00000343026.5:p.Lys633SerfsTer7
ENST00000350425.5:c.*1071_*1084del (ATP7A)	ENSP00000343678.5:n.*1071_*1084del
NM_000052.6:c.1898_1911del (ATP7A)	NP_000043.4:p.Lys633SerfsTer7
NM_001282224.1:c.1898_1911del (ATP7A)	NP_001269153.1:p.Lys633SerfsTer7
NR_104109.1:n.322-20196_322-20183del (ATP7A)
NM_000052.7:c.1898_1911del (ATP7A) MANE Select	NP_000043.4:p.Lys633SerfsTer7
NR_104109.2:n.285-20196_285-20183del (ATP7A)
NM_001282224.2:c.1898_1911del (ATP7A)	NP_001269153.1:p.Lys633SerfsTer7