Canonical Allele Identifier: CA2439099632

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009277_78009278delinsAT , CM000685.2:g.78009277_78009278delinsAT	GRCh38
NC_000023.10:g.77264774_77264775delinsAT , CM000685.1:g.77264774_77264775delinsAT	GRCh37
NC_000023.9:g.77151430_77151431delinsAT	NCBI36
NG_013224.2:g.103581_103582delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1899+14_1899+15delinsAT (ATP7A)	ENSP00000343026.6:n.1899+14_1899+15delinsAT
ENST00000682742.2:n.2045_2046delinsAT (ATP7A)
ENST00000685264.1:c.1869+14_1869+15delinsAT (ATP7A)	ENSP00000510136.1:n.1869+14_1869+15delinsAT
ENST00000685434.1:n.1917_1918delinsAT (ATP7A)
ENST00000686033.1:c.1869+14_1869+15delinsAT (ATP7A)	ENSP00000510693.1:n.1869+14_1869+15delinsAT
ENST00000686133.1:c.1869+14_1869+15delinsAT (ATP7A)	ENSP00000509233.1:n.1869+14_1869+15delinsAT
ENST00000686416.1:n.2237_2238delinsAT (ATP7A)
ENST00000686480.1:c.1869+14_1869+15delinsAT (ATP7A)	ENSP00000508978.1:n.1869+14_1869+15delinsAT
ENST00000686515.1:n.2009+14_2009+15delinsAT (ATP7A)
ENST00000686543.1:c.1869+14_1869+15delinsAT (ATP7A)	ENSP00000509477.1:n.1869+14_1869+15delinsAT
ENST00000686688.1:c.1869+14_1869+15delinsAT (ATP7A)	ENSP00000509416.1:n.1869+14_1869+15delinsAT
ENST00000686999.1:n.2180+14_2180+15delinsAT (ATP7A)
ENST00000687086.1:c.1869+14_1869+15delinsAT (ATP7A)	ENSP00000509566.1:n.1869+14_1869+15delinsAT
ENST00000687628.1:n.1984_1985delinsAT (ATP7A)
ENST00000688746.1:n.2021+14_2021+15delinsAT (ATP7A)
ENST00000689530.1:c.1869+14_1869+15delinsAT (ATP7A)	ENSP00000509707.1:n.1869+14_1869+15delinsAT
ENST00000689541.1:n.2192_2193delinsAT (ATP7A)
ENST00000689649.1:c.1869+14_1869+15delinsAT (ATP7A)	ENSP00000509277.1:n.1869+14_1869+15delinsAT
ENST00000689767.1:c.1962+14_1962+15delinsAT (ATP7A)	ENSP00000509406.1:n.1962+14_1962+15delinsAT
ENST00000689872.1:c.1869+14_1869+15delinsAT (ATP7A)	ENSP00000509373.1:n.1869+14_1869+15delinsAT
ENST00000692110.1:c.1785+14_1785+15delinsAT (ATP7A)	ENSP00000509366.1:n.1785+14_1785+15delinsAT
ENST00000692908.1:c.1869+14_1869+15delinsAT (ATP7A)	ENSP00000508627.1:n.1869+14_1869+15delinsAT
ENST00000693387.1:c.*1812_*1813delinsAT (ATP7A)	ENSP00000508732.1:n.*1812_*1813delinsAT
ENST00000693398.1:c.1869+14_1869+15delinsAT (ATP7A)	ENSP00000510089.1:n.1869+14_1869+15delinsAT
ENST00000341514.11:c.1869+14_1869+15delinsAT (ATP7A) MANE Select	ENSP00000345728.6:n.1869+14_1869+15delinsAT
ENST00000644362.1:c.-20+98442_-20+98443delinsAT (PGK1)	ENSP00000496140.1:n.-20+98442_-20+98443delinsAT
ENST00000645094.1:c.*1783+14_*1783+15delinsAT (ATP7A)	ENSP00000493605.1:n.*1783+14_*1783+15delinsAT
ENST00000341514.10:c.1869+14_1869+15delinsAT (ATP7A)	ENSP00000345728.6:n.1869+14_1869+15delinsAT
ENST00000343533.9:c.1869+14_1869+15delinsAT (ATP7A)	ENSP00000343026.5:n.1869+14_1869+15delinsAT
ENST00000350425.5:c.*1042+14_*1042+15delinsAT (ATP7A)	ENSP00000343678.5:n.*1042+14_*1042+15delinsAT
NM_000052.6:c.1869+14_1869+15delinsAT (ATP7A)	NP_000043.4:n.1869+14_1869+15delinsAT
NM_001282224.1:c.1869+14_1869+15delinsAT (ATP7A)	NP_001269153.1:n.1869+14_1869+15delinsAT
NR_104109.1:n.322-22123_322-22122delinsAT (ATP7A)
NM_000052.7:c.1869+14_1869+15delinsAT (ATP7A) MANE Select	NP_000043.4:n.1869+14_1869+15delinsAT
NR_104109.2:n.285-22123_285-22122delinsAT (ATP7A)
NM_001282224.2:c.1869+14_1869+15delinsAT (ATP7A)	NP_001269153.1:n.1869+14_1869+15delinsAT