Canonical Allele Identifier: CA2579650406

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033610_78033611del , CM000685.2:g.78033610_78033611del	GRCh38
NC_000023.10:g.77289108_77289109del , CM000685.1:g.77289108_77289109del	GRCh37
NC_000023.9:g.77175764_77175765del	NCBI36
NG_013224.2:g.127914_127915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3330_3331del (ATP7A)	ENSP00000343026.6:p.Asp1111HisfsTer2
ENST00000682475.1:n.1717_1718del (ATP7A)
ENST00000685033.1:c.564_565del (ATP7A)	ENSP00000509269.1:p.Asp189HisfsTer2
ENST00000685264.1:c.3300_3301del (ATP7A)	ENSP00000510136.1:p.Asp1101HisfsTer2
ENST00000686033.1:c.3105_3106del (ATP7A)	ENSP00000510693.1:p.Asp1036HisfsTer2
ENST00000686133.1:c.3300_3301del (ATP7A)	ENSP00000509233.1:p.Asp1101HisfsTer2
ENST00000686255.1:n.2331_2332del (ATP7A)
ENST00000686543.1:c.3066_3067del (ATP7A)	ENSP00000509477.1:p.Asp1023HisfsTer2
ENST00000687086.1:c.3300_3301del (ATP7A)	ENSP00000509566.1:p.Asp1101HisfsTer2
ENST00000689514.1:n.1342_1343del (ATP7A)
ENST00000689767.1:c.3393_3394del (ATP7A)	ENSP00000509406.1:p.Asp1132HisfsTer2
ENST00000692908.1:c.3066_3067del (ATP7A)	ENSP00000508627.1:p.Asp1023HisfsTer2
ENST00000341514.11:c.3300_3301del (ATP7A) MANE Select	ENSP00000345728.6:p.Asp1101HisfsTer2
ENST00000644362.1:c.-19-76257_-19-76256del (PGK1)	ENSP00000496140.1:n.-19-76257_-19-76256del
ENST00000645094.1:c.*3214_*3215del (ATP7A)	ENSP00000493605.1:n.*3214_*3215del
ENST00000341514.10:c.3300_3301del (ATP7A)	ENSP00000345728.6:p.Asp1101HisfsTer2
ENST00000343533.9:c.3066_3067del (ATP7A)	ENSP00000343026.5:p.Asp1023HisfsTer2
ENST00000350425.5:c.*2473_*2474del (ATP7A)	ENSP00000343678.5:n.*2473_*2474del
NM_000052.6:c.3300_3301del (ATP7A)	NP_000043.4:p.Asp1101HisfsTer2
NM_001282224.1:c.3066_3067del (ATP7A)	NP_001269153.1:p.Asp1023HisfsTer2
NR_104109.1:n.510_511del (ATP7A)
NM_000052.7:c.3300_3301del (ATP7A) MANE Select	NP_000043.4:p.Asp1101HisfsTer2
NR_104109.2:n.473_474del (ATP7A)
NM_001282224.2:c.3066_3067del (ATP7A)	NP_001269153.1:p.Asp1023HisfsTer2