Canonical Allele Identifier: CA2439099661

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009340_78009344delinsCAGAT , CM000685.2:g.78009340_78009344delinsCAGAT	GRCh38
NC_000023.10:g.77264837_77264841delinsCAGAT , CM000685.1:g.77264837_77264841delinsCAGAT	GRCh37
NC_000023.9:g.77151493_77151497delinsCAGAT	NCBI36
NG_013224.2:g.103644_103648delinsCAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1899+77_1899+81delinsCAGAT (ATP7A)	ENSP00000343026.6:n.1899+77_1899+81delinsCAGAT
ENST00000682742.2:n.2108_2112delinsCAGAT (ATP7A)
ENST00000685264.1:c.1869+77_1869+81delinsCAGAT (ATP7A)	ENSP00000510136.1:n.1869+77_1869+81delinsCAGAT
ENST00000685434.1:n.1980_1984delinsCAGAT (ATP7A)
ENST00000686033.1:c.1869+77_1869+81delinsCAGAT (ATP7A)	ENSP00000510693.1:n.1869+77_1869+81delinsCAGAT
ENST00000686133.1:c.1869+77_1869+81delinsCAGAT (ATP7A)	ENSP00000509233.1:n.1869+77_1869+81delinsCAGAT
ENST00000686416.1:n.2300_2304delinsCAGAT (ATP7A)
ENST00000686480.1:c.1869+77_1869+81delinsCAGAT (ATP7A)	ENSP00000508978.1:n.1869+77_1869+81delinsCAGAT
ENST00000686515.1:n.2009+77_2009+81delinsCAGAT (ATP7A)
ENST00000686543.1:c.1869+77_1869+81delinsCAGAT (ATP7A)	ENSP00000509477.1:n.1869+77_1869+81delinsCAGAT
ENST00000686688.1:c.1869+77_1869+81delinsCAGAT (ATP7A)	ENSP00000509416.1:n.1869+77_1869+81delinsCAGAT
ENST00000686999.1:n.2180+77_2180+81delinsCAGAT (ATP7A)
ENST00000687086.1:c.1869+77_1869+81delinsCAGAT (ATP7A)	ENSP00000509566.1:n.1869+77_1869+81delinsCAGAT
ENST00000687628.1:n.2047_2051delinsCAGAT (ATP7A)
ENST00000688746.1:n.2021+77_2021+81delinsCAGAT (ATP7A)
ENST00000689530.1:c.1869+77_1869+81delinsCAGAT (ATP7A)	ENSP00000509707.1:n.1869+77_1869+81delinsCAGAT
ENST00000689541.1:n.2255_2259delinsCAGAT (ATP7A)
ENST00000689649.1:c.1869+77_1869+81delinsCAGAT (ATP7A)	ENSP00000509277.1:n.1869+77_1869+81delinsCAGAT
ENST00000689767.1:c.1962+77_1962+81delinsCAGAT (ATP7A)	ENSP00000509406.1:n.1962+77_1962+81delinsCAGAT
ENST00000689872.1:c.1869+77_1869+81delinsCAGAT (ATP7A)	ENSP00000509373.1:n.1869+77_1869+81delinsCAGAT
ENST00000692110.1:c.1785+77_1785+81delinsCAGAT (ATP7A)	ENSP00000509366.1:n.1785+77_1785+81delinsCAGAT
ENST00000692908.1:c.1869+77_1869+81delinsCAGAT (ATP7A)	ENSP00000508627.1:n.1869+77_1869+81delinsCAGAT
ENST00000693387.1:c.*1875_*1879delinsCAGAT (ATP7A)	ENSP00000508732.1:n.*1875_*1879delinsCAGAT
ENST00000693398.1:c.1869+77_1869+81delinsCAGAT (ATP7A)	ENSP00000510089.1:n.1869+77_1869+81delinsCAGAT
ENST00000341514.11:c.1869+77_1869+81delinsCAGAT (ATP7A) MANE Select	ENSP00000345728.6:n.1869+77_1869+81delinsCAGAT
ENST00000644362.1:c.-20+98505_-20+98509delinsCAGAT (PGK1)	ENSP00000496140.1:n.-20+98505_-20+98509delinsCAGAT
ENST00000645094.1:c.*1783+77_*1783+81delinsCAGAT (ATP7A)	ENSP00000493605.1:n.*1783+77_*1783+81delinsCAGAT
ENST00000341514.10:c.1869+77_1869+81delinsCAGAT (ATP7A)	ENSP00000345728.6:n.1869+77_1869+81delinsCAGAT
ENST00000343533.9:c.1869+77_1869+81delinsCAGAT (ATP7A)	ENSP00000343026.5:n.1869+77_1869+81delinsCAGAT
ENST00000350425.5:c.*1042+77_*1042+81delinsCAGAT (ATP7A)	ENSP00000343678.5:n.*1042+77_*1042+81delinsCAGAT
NM_000052.6:c.1869+77_1869+81delinsCAGAT (ATP7A)	NP_000043.4:n.1869+77_1869+81delinsCAGAT
NM_001282224.1:c.1869+77_1869+81delinsCAGAT (ATP7A)	NP_001269153.1:n.1869+77_1869+81delinsCAGAT
NR_104109.1:n.322-22060_322-22056delinsCAGAT (ATP7A)
NM_000052.7:c.1869+77_1869+81delinsCAGAT (ATP7A) MANE Select	NP_000043.4:n.1869+77_1869+81delinsCAGAT
NR_104109.2:n.285-22060_285-22056delinsCAGAT (ATP7A)
NM_001282224.2:c.1869+77_1869+81delinsCAGAT (ATP7A)	NP_001269153.1:n.1869+77_1869+81delinsCAGAT