Canonical Allele Identifier: CA2695235703

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011513_78011514dup , CM000685.2:g.78011513_78011514dup	GRCh38
NC_000023.10:g.77267010_77267011dup , CM000685.1:g.77267010_77267011dup	GRCh37
NC_000023.9:g.77153666_77153667dup	NCBI36
NG_013224.2:g.105817_105818dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2041_2042dup (ATP7A)	ENSP00000343026.6:p.Met681IlefsTer2
ENST00000682475.1:n.662_663dup (ATP7A)
ENST00000685264.1:c.2011_2012dup (ATP7A)	ENSP00000510136.1:p.Met671IlefsTer2
ENST00000686033.1:c.2011_2012dup (ATP7A)	ENSP00000510693.1:p.Met671IlefsTer2
ENST00000686133.1:c.2011_2012dup (ATP7A)	ENSP00000509233.1:p.Met671IlefsTer2
ENST00000686255.1:n.1042_1043dup (ATP7A)
ENST00000686480.1:c.2011_2012dup (ATP7A)	ENSP00000508978.1:p.Met671IlefsTer2
ENST00000686515.1:n.2151_2152dup (ATP7A)
ENST00000686543.1:c.2011_2012dup (ATP7A)	ENSP00000509477.1:p.Met671IlefsTer2
ENST00000686688.1:c.2011_2012dup (ATP7A)	ENSP00000509416.1:p.Met671IlefsTer2
ENST00000686999.1:n.2322_2323dup (ATP7A)
ENST00000687086.1:c.2011_2012dup (ATP7A)	ENSP00000509566.1:p.Met671IlefsTer2
ENST00000687628.1:n.4220_4221dup (ATP7A)
ENST00000688746.1:n.2163_2164dup (ATP7A)
ENST00000689514.1:n.53_54dup (ATP7A)
ENST00000689530.1:c.2011_2012dup (ATP7A)	ENSP00000509707.1:p.Met671IlefsTer2
ENST00000689649.1:c.2011_2012dup (ATP7A)	ENSP00000509277.1:p.Met671IlefsTer2
ENST00000689767.1:c.2104_2105dup (ATP7A)	ENSP00000509406.1:p.Met702IlefsTer2
ENST00000689872.1:c.1934_1935dup (ATP7A)	ENSP00000509373.1:p.Asp646MetfsTer?
ENST00000692110.1:c.1927_1928dup (ATP7A)	ENSP00000509366.1:p.Met643IlefsTer2
ENST00000692908.1:c.2011_2012dup (ATP7A)	ENSP00000508627.1:p.Met671IlefsTer2
ENST00000693398.1:c.2011_2012dup (ATP7A)	ENSP00000510089.1:p.Met671IlefsTer2
ENST00000341514.11:c.2011_2012dup (ATP7A) MANE Select	ENSP00000345728.6:p.Met671IlefsTer2
ENST00000644362.1:c.-19-98354_-19-98353dup (PGK1)	ENSP00000496140.1:n.-19-98354_-19-98353dup
ENST00000645094.1:c.*1925_*1926dup (ATP7A)	ENSP00000493605.1:n.*1925_*1926dup
ENST00000341514.10:c.2011_2012dup (ATP7A)	ENSP00000345728.6:p.Met671IlefsTer2
ENST00000343533.9:c.2011_2012dup (ATP7A)	ENSP00000343026.5:p.Met671IlefsTer2
ENST00000350425.5:c.*1184_*1185dup (ATP7A)	ENSP00000343678.5:n.*1184_*1185dup
NM_000052.6:c.2011_2012dup (ATP7A)	NP_000043.4:p.Met671IlefsTer2
NM_001282224.1:c.2011_2012dup (ATP7A)	NP_001269153.1:p.Met671IlefsTer2
NR_104109.1:n.322-19887_322-19886dup (ATP7A)
NM_000052.7:c.2011_2012dup (ATP7A) MANE Select	NP_000043.4:p.Met671IlefsTer2
NR_104109.2:n.285-19887_285-19886dup (ATP7A)
NM_001282224.2:c.2011_2012dup (ATP7A)	NP_001269153.1:p.Met671IlefsTer2