Canonical Allele Identifier: CA2439099609

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs2077799783

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009206_78009207insTTTGTT , CM000685.2:g.78009206_78009207insTTTGTT	GRCh38
NC_000023.10:g.77264703_77264704insTTTGTT , CM000685.1:g.77264703_77264704insTTTGTT	GRCh37
NC_000023.9:g.77151359_77151360insTTTGTT	NCBI36
NG_013224.2:g.103510_103511insTTTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1842_1843insTTTGTT (ATP7A)	ENSP00000343026.6:p.Ala614_His615insPheVal
ENST00000682742.2:n.1974_1975insTTTGTT (ATP7A)
ENST00000685264.1:c.1812_1813insTTTGTT (ATP7A)	ENSP00000510136.1:p.Ala604_His605insPheVal
ENST00000685434.1:n.1846_1847insTTTGTT (ATP7A)
ENST00000686033.1:c.1812_1813insTTTGTT (ATP7A)	ENSP00000510693.1:p.Ala604_His605insPheVal
ENST00000686133.1:c.1812_1813insTTTGTT (ATP7A)	ENSP00000509233.1:p.Ala604_His605insPheVal
ENST00000686416.1:n.2166_2167insTTTGTT (ATP7A)
ENST00000686480.1:c.1812_1813insTTTGTT (ATP7A)	ENSP00000508978.1:p.Ala604_His605insPheVal
ENST00000686515.1:n.1952_1953insTTTGTT (ATP7A)
ENST00000686543.1:c.1812_1813insTTTGTT (ATP7A)	ENSP00000509477.1:p.Ala604_His605insPheVal
ENST00000686688.1:c.1812_1813insTTTGTT (ATP7A)	ENSP00000509416.1:p.Ala604_His605insPheVal
ENST00000686999.1:n.2123_2124insTTTGTT (ATP7A)
ENST00000687086.1:c.1812_1813insTTTGTT (ATP7A)	ENSP00000509566.1:p.Ala604_His605insPheVal
ENST00000687628.1:n.1913_1914insTTTGTT (ATP7A)
ENST00000688746.1:n.1964_1965insTTTGTT (ATP7A)
ENST00000689530.1:c.1812_1813insTTTGTT (ATP7A)	ENSP00000509707.1:p.Ala604_His605insPheVal
ENST00000689541.1:n.2121_2122insTTTGTT (ATP7A)
ENST00000689649.1:c.1812_1813insTTTGTT (ATP7A)	ENSP00000509277.1:p.Ala604_His605insPheVal
ENST00000689767.1:c.1905_1906insTTTGTT (ATP7A)	ENSP00000509406.1:p.Ala635_His636insPheVal
ENST00000689872.1:c.1812_1813insTTTGTT (ATP7A)	ENSP00000509373.1:p.Ala604_His605insPheVal
ENST00000692110.1:c.1728_1729insTTTGTT (ATP7A)	ENSP00000509366.1:p.Ala576_His577insPheVal
ENST00000692908.1:c.1812_1813insTTTGTT (ATP7A)	ENSP00000508627.1:p.Ala604_His605insPheVal
ENST00000693387.1:c.*1741_*1742insTTTGTT (ATP7A)	ENSP00000508732.1:n.*1741_*1742insTTTGTT
ENST00000693398.1:c.1812_1813insTTTGTT (ATP7A)	ENSP00000510089.1:p.Ala604_His605insPheVal
ENST00000341514.11:c.1812_1813insTTTGTT (ATP7A) MANE Select	ENSP00000345728.6:p.Ala604_His605insPheVal
ENST00000644362.1:c.-20+98371_-20+98372insTTTGTT (PGK1)	ENSP00000496140.1:n.-20+98371_-20+98372insTTTGTT
ENST00000645094.1:c.*1726_*1727insTTTGTT (ATP7A)	ENSP00000493605.1:n.*1726_*1727insTTTGTT
ENST00000341514.10:c.1812_1813insTTTGTT (ATP7A)	ENSP00000345728.6:p.Ala604_His605insPheVal
ENST00000343533.9:c.1812_1813insTTTGTT (ATP7A)	ENSP00000343026.5:p.Ala604_His605insPheVal
ENST00000350425.5:c.*985_*986insTTTGTT (ATP7A)	ENSP00000343678.5:n.*985_*986insTTTGTT
NM_000052.6:c.1812_1813insTTTGTT (ATP7A)	NP_000043.4:p.Ala604_His605insPheVal
NM_001282224.1:c.1812_1813insTTTGTT (ATP7A)	NP_001269153.1:p.Ala604_His605insPheVal
NR_104109.1:n.322-22194_322-22193insTTTGTT (ATP7A)
NM_000052.7:c.1812_1813insTTTGTT (ATP7A) MANE Select	NP_000043.4:p.Ala604_His605insPheVal
NR_104109.2:n.285-22194_285-22193insTTTGTT (ATP7A)
NM_001282224.2:c.1812_1813insTTTGTT (ATP7A)	NP_001269153.1:p.Ala604_His605insPheVal