Canonical Allele Identifier: CA2514052463

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78008973_78008974insTG , CM000685.2:g.78008973_78008974insTG	GRCh38
NC_000023.10:g.77264470_77264471insTG , CM000685.1:g.77264470_77264471insTG	GRCh37
NC_000023.9:g.77151126_77151127insTG	NCBI36
NG_013224.2:g.103277_103278insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1738-129_1738-128insTG (ATP7A)	ENSP00000343026.6:n.1738-129_1738-128insTG
ENST00000682742.2:n.1870-129_1870-128insTG (ATP7A)
ENST00000685264.1:c.1708-129_1708-128insTG (ATP7A)	ENSP00000510136.1:n.1708-129_1708-128insTG
ENST00000685434.1:n.1742-129_1742-128insTG (ATP7A)
ENST00000686033.1:c.1708-129_1708-128insTG (ATP7A)	ENSP00000510693.1:n.1708-129_1708-128insTG
ENST00000686133.1:c.1708-129_1708-128insTG (ATP7A)	ENSP00000509233.1:n.1708-129_1708-128insTG
ENST00000686416.1:n.2062-129_2062-128insTG (ATP7A)
ENST00000686480.1:c.1708-129_1708-128insTG (ATP7A)	ENSP00000508978.1:n.1708-129_1708-128insTG
ENST00000686515.1:n.1848-129_1848-128insTG (ATP7A)
ENST00000686543.1:c.1708-129_1708-128insTG (ATP7A)	ENSP00000509477.1:n.1708-129_1708-128insTG
ENST00000686688.1:c.1708-129_1708-128insTG (ATP7A)	ENSP00000509416.1:n.1708-129_1708-128insTG
ENST00000686999.1:n.2019-129_2019-128insTG (ATP7A)
ENST00000687086.1:c.1708-129_1708-128insTG (ATP7A)	ENSP00000509566.1:n.1708-129_1708-128insTG
ENST00000687628.1:n.1809-129_1809-128insTG (ATP7A)
ENST00000688746.1:n.1860-129_1860-128insTG (ATP7A)
ENST00000689530.1:c.1708-129_1708-128insTG (ATP7A)	ENSP00000509707.1:n.1708-129_1708-128insTG
ENST00000689541.1:n.2017-129_2017-128insTG (ATP7A)
ENST00000689649.1:c.1708-129_1708-128insTG (ATP7A)	ENSP00000509277.1:n.1708-129_1708-128insTG
ENST00000689767.1:c.1801-129_1801-128insTG (ATP7A)	ENSP00000509406.1:n.1801-129_1801-128insTG
ENST00000689872.1:c.1708-129_1708-128insTG (ATP7A)	ENSP00000509373.1:n.1708-129_1708-128insTG
ENST00000692110.1:c.1624-129_1624-128insTG (ATP7A)	ENSP00000509366.1:n.1624-129_1624-128insTG
ENST00000692908.1:c.1708-129_1708-128insTG (ATP7A)	ENSP00000508627.1:n.1708-129_1708-128insTG
ENST00000693387.1:c.*1637-129_*1637-128insTG (ATP7A)	ENSP00000508732.1:n.*1637-129_*1637-128insTG
ENST00000693398.1:c.1708-129_1708-128insTG (ATP7A)	ENSP00000510089.1:n.1708-129_1708-128insTG
ENST00000341514.11:c.1708-129_1708-128insTG (ATP7A) MANE Select	ENSP00000345728.6:n.1708-129_1708-128insTG
ENST00000644362.1:c.-20+98138_-20+98139insTG (PGK1)	ENSP00000496140.1:n.-20+98138_-20+98139insTG
ENST00000645094.1:c.*1622-129_*1622-128insTG (ATP7A)	ENSP00000493605.1:n.*1622-129_*1622-128insTG
ENST00000341514.10:c.1708-129_1708-128insTG (ATP7A)	ENSP00000345728.6:n.1708-129_1708-128insTG
ENST00000343533.9:c.1708-129_1708-128insTG (ATP7A)	ENSP00000343026.5:n.1708-129_1708-128insTG
ENST00000350425.5:c.*881-129_*881-128insTG (ATP7A)	ENSP00000343678.5:n.*881-129_*881-128insTG
NM_000052.6:c.1708-129_1708-128insTG (ATP7A)	NP_000043.4:n.1708-129_1708-128insTG
NM_001282224.1:c.1708-129_1708-128insTG (ATP7A)	NP_001269153.1:n.1708-129_1708-128insTG
NR_104109.1:n.322-22427_322-22426insTG (ATP7A)
NM_000052.7:c.1708-129_1708-128insTG (ATP7A) MANE Select	NP_000043.4:n.1708-129_1708-128insTG
NR_104109.2:n.285-22427_285-22426insTG (ATP7A)
NM_001282224.2:c.1708-129_1708-128insTG (ATP7A)	NP_001269153.1:n.1708-129_1708-128insTG