Canonical Allele Identifier: CA2505748873

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78008970_78008971insT , CM000685.2:g.78008970_78008971insT	GRCh38
NC_000023.10:g.77264467_77264468insT , CM000685.1:g.77264467_77264468insT	GRCh37
NC_000023.9:g.77151123_77151124insT	NCBI36
NG_013224.2:g.103274_103275insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1738-132_1738-131insT (ATP7A)	ENSP00000343026.6:n.1738-132_1738-131insT
ENST00000682742.2:n.1870-132_1870-131insT (ATP7A)
ENST00000685264.1:c.1708-132_1708-131insT (ATP7A)	ENSP00000510136.1:n.1708-132_1708-131insT
ENST00000685434.1:n.1742-132_1742-131insT (ATP7A)
ENST00000686033.1:c.1708-132_1708-131insT (ATP7A)	ENSP00000510693.1:n.1708-132_1708-131insT
ENST00000686133.1:c.1708-132_1708-131insT (ATP7A)	ENSP00000509233.1:n.1708-132_1708-131insT
ENST00000686416.1:n.2062-132_2062-131insT (ATP7A)
ENST00000686480.1:c.1708-132_1708-131insT (ATP7A)	ENSP00000508978.1:n.1708-132_1708-131insT
ENST00000686515.1:n.1848-132_1848-131insT (ATP7A)
ENST00000686543.1:c.1708-132_1708-131insT (ATP7A)	ENSP00000509477.1:n.1708-132_1708-131insT
ENST00000686688.1:c.1708-132_1708-131insT (ATP7A)	ENSP00000509416.1:n.1708-132_1708-131insT
ENST00000686999.1:n.2019-132_2019-131insT (ATP7A)
ENST00000687086.1:c.1708-132_1708-131insT (ATP7A)	ENSP00000509566.1:n.1708-132_1708-131insT
ENST00000687628.1:n.1809-132_1809-131insT (ATP7A)
ENST00000688746.1:n.1860-132_1860-131insT (ATP7A)
ENST00000689530.1:c.1708-132_1708-131insT (ATP7A)	ENSP00000509707.1:n.1708-132_1708-131insT
ENST00000689541.1:n.2017-132_2017-131insT (ATP7A)
ENST00000689649.1:c.1708-132_1708-131insT (ATP7A)	ENSP00000509277.1:n.1708-132_1708-131insT
ENST00000689767.1:c.1801-132_1801-131insT (ATP7A)	ENSP00000509406.1:n.1801-132_1801-131insT
ENST00000689872.1:c.1708-132_1708-131insT (ATP7A)	ENSP00000509373.1:n.1708-132_1708-131insT
ENST00000692110.1:c.1624-132_1624-131insT (ATP7A)	ENSP00000509366.1:n.1624-132_1624-131insT
ENST00000692908.1:c.1708-132_1708-131insT (ATP7A)	ENSP00000508627.1:n.1708-132_1708-131insT
ENST00000693387.1:c.*1637-132_*1637-131insT (ATP7A)	ENSP00000508732.1:n.*1637-132_*1637-131insT
ENST00000693398.1:c.1708-132_1708-131insT (ATP7A)	ENSP00000510089.1:n.1708-132_1708-131insT
ENST00000341514.11:c.1708-132_1708-131insT (ATP7A) MANE Select	ENSP00000345728.6:n.1708-132_1708-131insT
ENST00000644362.1:c.-20+98135_-20+98136insT (PGK1)	ENSP00000496140.1:n.-20+98135_-20+98136insT
ENST00000645094.1:c.*1622-132_*1622-131insT (ATP7A)	ENSP00000493605.1:n.*1622-132_*1622-131insT
ENST00000341514.10:c.1708-132_1708-131insT (ATP7A)	ENSP00000345728.6:n.1708-132_1708-131insT
ENST00000343533.9:c.1708-132_1708-131insT (ATP7A)	ENSP00000343026.5:n.1708-132_1708-131insT
ENST00000350425.5:c.*881-132_*881-131insT (ATP7A)	ENSP00000343678.5:n.*881-132_*881-131insT
NM_000052.6:c.1708-132_1708-131insT (ATP7A)	NP_000043.4:n.1708-132_1708-131insT
NM_001282224.1:c.1708-132_1708-131insT (ATP7A)	NP_001269153.1:n.1708-132_1708-131insT
NR_104109.1:n.322-22430_322-22429insT (ATP7A)
NM_000052.7:c.1708-132_1708-131insT (ATP7A) MANE Select	NP_000043.4:n.1708-132_1708-131insT
NR_104109.2:n.285-22430_285-22429insT (ATP7A)
NM_001282224.2:c.1708-132_1708-131insT (ATP7A)	NP_001269153.1:n.1708-132_1708-131insT