Canonical Allele Identifier: CA2439107585

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033486_78033489delinsGGCA , CM000685.2:g.78033486_78033489delinsGGCA	GRCh38
NC_000023.10:g.77288984_77288987delinsGGCA , CM000685.1:g.77288984_77288987delinsGGCA	GRCh37
NC_000023.9:g.77175640_77175643delinsGGCA	NCBI36
NG_013224.2:g.127790_127793delinsGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3325-119_3325-116delinsGGCA (ATP7A)	ENSP00000343026.6:n.3325-119_3325-116delinsGGCA
ENST00000682475.1:n.1712-119_1712-116delinsGGCA (ATP7A)
ENST00000685033.1:c.559-119_559-116delinsGGCA (ATP7A)	ENSP00000509269.1:n.559-119_559-116delinsGGCA
ENST00000685264.1:c.3295-119_3295-116delinsGGCA (ATP7A)	ENSP00000510136.1:n.3295-119_3295-116delinsGGCA
ENST00000686033.1:c.3100-119_3100-116delinsGGCA (ATP7A)	ENSP00000510693.1:n.3100-119_3100-116delinsGGCA
ENST00000686133.1:c.3295-119_3295-116delinsGGCA (ATP7A)	ENSP00000509233.1:n.3295-119_3295-116delinsGGCA
ENST00000686255.1:n.2326-119_2326-116delinsGGCA (ATP7A)
ENST00000686543.1:c.3061-119_3061-116delinsGGCA (ATP7A)	ENSP00000509477.1:n.3061-119_3061-116delinsGGCA
ENST00000687086.1:c.3295-119_3295-116delinsGGCA (ATP7A)	ENSP00000509566.1:n.3295-119_3295-116delinsGGCA
ENST00000689514.1:n.1337-119_1337-116delinsGGCA (ATP7A)
ENST00000689767.1:c.3388-119_3388-116delinsGGCA (ATP7A)	ENSP00000509406.1:n.3388-119_3388-116delinsGGCA
ENST00000692908.1:c.3061-119_3061-116delinsGGCA (ATP7A)	ENSP00000508627.1:n.3061-119_3061-116delinsGGCA
ENST00000341514.11:c.3295-119_3295-116delinsGGCA (ATP7A) MANE Select	ENSP00000345728.6:n.3295-119_3295-116delinsGGCA
ENST00000644362.1:c.-19-76381_-19-76378delinsGGCA (PGK1)	ENSP00000496140.1:n.-19-76381_-19-76378delinsGGCA
ENST00000645094.1:c.*3209-119_*3209-116delinsGGCA (ATP7A)	ENSP00000493605.1:n.*3209-119_*3209-116delinsGGCA
ENST00000341514.10:c.3295-119_3295-116delinsGGCA (ATP7A)	ENSP00000345728.6:n.3295-119_3295-116delinsGGCA
ENST00000343533.9:c.3061-119_3061-116delinsGGCA (ATP7A)	ENSP00000343026.5:n.3061-119_3061-116delinsGGCA
ENST00000350425.5:c.*2468-119_*2468-116delinsGGCA (ATP7A)	ENSP00000343678.5:n.*2468-119_*2468-116delinsGGCA
NM_000052.6:c.3295-119_3295-116delinsGGCA (ATP7A)	NP_000043.4:n.3295-119_3295-116delinsGGCA
NM_001282224.1:c.3061-119_3061-116delinsGGCA (ATP7A)	NP_001269153.1:n.3061-119_3061-116delinsGGCA
NR_104109.1:n.505-119_505-116delinsGGCA (ATP7A)
NM_000052.7:c.3295-119_3295-116delinsGGCA (ATP7A) MANE Select	NP_000043.4:n.3295-119_3295-116delinsGGCA
NR_104109.2:n.468-119_468-116delinsGGCA (ATP7A)
NM_001282224.2:c.3061-119_3061-116delinsGGCA (ATP7A)	NP_001269153.1:n.3061-119_3061-116delinsGGCA