Canonical Allele Identifier: CA2439099611

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs2077799836

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009207_78009208insTTCAGGAAT , CM000685.2:g.78009207_78009208insTTCAGGAAT	GRCh38
NC_000023.10:g.77264704_77264705insTTCAGGAAT , CM000685.1:g.77264704_77264705insTTCAGGAAT	GRCh37
NC_000023.9:g.77151360_77151361insTTCAGGAAT	NCBI36
NG_013224.2:g.103511_103512insTTCAGGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1843_1844insTTCAGGAAT (ATP7A)	ENSP00000343026.6:p.His615delinsLeuGlnGluTyr
ENST00000682742.2:n.1975_1976insTTCAGGAAT (ATP7A)
ENST00000685264.1:c.1813_1814insTTCAGGAAT (ATP7A)	ENSP00000510136.1:p.His605delinsLeuGlnGluTyr
ENST00000685434.1:n.1847_1848insTTCAGGAAT (ATP7A)
ENST00000686033.1:c.1813_1814insTTCAGGAAT (ATP7A)	ENSP00000510693.1:p.His605delinsLeuGlnGluTyr
ENST00000686133.1:c.1813_1814insTTCAGGAAT (ATP7A)	ENSP00000509233.1:p.His605delinsLeuGlnGluTyr
ENST00000686416.1:n.2167_2168insTTCAGGAAT (ATP7A)
ENST00000686480.1:c.1813_1814insTTCAGGAAT (ATP7A)	ENSP00000508978.1:p.His605delinsLeuGlnGluTyr
ENST00000686515.1:n.1953_1954insTTCAGGAAT (ATP7A)
ENST00000686543.1:c.1813_1814insTTCAGGAAT (ATP7A)	ENSP00000509477.1:p.His605delinsLeuGlnGluTyr
ENST00000686688.1:c.1813_1814insTTCAGGAAT (ATP7A)	ENSP00000509416.1:p.His605delinsLeuGlnGluTyr
ENST00000686999.1:n.2124_2125insTTCAGGAAT (ATP7A)
ENST00000687086.1:c.1813_1814insTTCAGGAAT (ATP7A)	ENSP00000509566.1:p.His605delinsLeuGlnGluTyr
ENST00000687628.1:n.1914_1915insTTCAGGAAT (ATP7A)
ENST00000688746.1:n.1965_1966insTTCAGGAAT (ATP7A)
ENST00000689530.1:c.1813_1814insTTCAGGAAT (ATP7A)	ENSP00000509707.1:p.His605delinsLeuGlnGluTyr
ENST00000689541.1:n.2122_2123insTTCAGGAAT (ATP7A)
ENST00000689649.1:c.1813_1814insTTCAGGAAT (ATP7A)	ENSP00000509277.1:p.His605delinsLeuGlnGluTyr
ENST00000689767.1:c.1906_1907insTTCAGGAAT (ATP7A)	ENSP00000509406.1:p.His636delinsLeuGlnGluTyr
ENST00000689872.1:c.1813_1814insTTCAGGAAT (ATP7A)	ENSP00000509373.1:p.His605delinsLeuGlnGluTyr
ENST00000692110.1:c.1729_1730insTTCAGGAAT (ATP7A)	ENSP00000509366.1:p.His577delinsLeuGlnGluTyr
ENST00000692908.1:c.1813_1814insTTCAGGAAT (ATP7A)	ENSP00000508627.1:p.His605delinsLeuGlnGluTyr
ENST00000693387.1:c.*1742_*1743insTTCAGGAAT (ATP7A)	ENSP00000508732.1:n.*1742_*1743insTTCAGGAAT
ENST00000693398.1:c.1813_1814insTTCAGGAAT (ATP7A)	ENSP00000510089.1:p.His605delinsLeuGlnGluTyr
ENST00000341514.11:c.1813_1814insTTCAGGAAT (ATP7A) MANE Select	ENSP00000345728.6:p.His605delinsLeuGlnGluTyr
ENST00000644362.1:c.-20+98372_-20+98373insTTCAGGAAT (PGK1)	ENSP00000496140.1:n.-20+98372_-20+98373insTTCAGGAAT
ENST00000645094.1:c.*1727_*1728insTTCAGGAAT (ATP7A)	ENSP00000493605.1:n.*1727_*1728insTTCAGGAAT
ENST00000341514.10:c.1813_1814insTTCAGGAAT (ATP7A)	ENSP00000345728.6:p.His605delinsLeuGlnGluTyr
ENST00000343533.9:c.1813_1814insTTCAGGAAT (ATP7A)	ENSP00000343026.5:p.His605delinsLeuGlnGluTyr
ENST00000350425.5:c.*986_*987insTTCAGGAAT (ATP7A)	ENSP00000343678.5:n.*986_*987insTTCAGGAAT
NM_000052.6:c.1813_1814insTTCAGGAAT (ATP7A)	NP_000043.4:p.His605delinsLeuGlnGluTyr
NM_001282224.1:c.1813_1814insTTCAGGAAT (ATP7A)	NP_001269153.1:p.His605delinsLeuGlnGluTyr
NR_104109.1:n.322-22193_322-22192insTTCAGGAAT (ATP7A)
NM_000052.7:c.1813_1814insTTCAGGAAT (ATP7A) MANE Select	NP_000043.4:p.His605delinsLeuGlnGluTyr
NR_104109.2:n.285-22193_285-22192insTTCAGGAAT (ATP7A)
NM_001282224.2:c.1813_1814insTTCAGGAAT (ATP7A)	NP_001269153.1:p.His605delinsLeuGlnGluTyr