Canonical Allele Identifier: CA10459348

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs781913794
• ExAC: X:77276588 G / GTA
• gnomAD v2: X-77276588-G-GTA
• gnomAD v4: X-78021091-G-GTA
• MyVariant Identifiers: chrX:g.77276588_77276589insTA (hg19) ; chrX:g.78021091_78021092insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78021092_78021093dup , CM000685.2:g.78021092_78021093dup	GRCh38
NC_000023.10:g.77276589_77276590dup , CM000685.1:g.77276589_77276590dup	GRCh37
NC_000023.9:g.77163245_77163246dup	NCBI36
NG_013224.2:g.115396_115397dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2946+13_2946+14dup (ATP7A)	ENSP00000343026.6:n.2946+13_2946+14dup
ENST00000682475.1:n.1333+13_1333+14dup (ATP7A)
ENST00000685033.1:c.375+694_375+695dup (ATP7A)	ENSP00000509269.1:n.375+694_375+695dup
ENST00000685264.1:c.2916+13_2916+14dup (ATP7A)	ENSP00000510136.1:n.2916+13_2916+14dup
ENST00000686033.1:c.2916+13_2916+14dup (ATP7A)	ENSP00000510693.1:n.2916+13_2916+14dup
ENST00000686133.1:c.2916+13_2916+14dup (ATP7A)	ENSP00000509233.1:n.2916+13_2916+14dup
ENST00000686255.1:n.1947+13_1947+14dup (ATP7A)
ENST00000686543.1:c.2682+13_2682+14dup (ATP7A)	ENSP00000509477.1:n.2682+13_2682+14dup
ENST00000687086.1:c.2916+13_2916+14dup (ATP7A)	ENSP00000509566.1:n.2916+13_2916+14dup
ENST00000689514.1:n.958+13_958+14dup (ATP7A)
ENST00000689767.1:c.3009+13_3009+14dup (ATP7A)	ENSP00000509406.1:n.3009+13_3009+14dup
ENST00000692908.1:c.2682+13_2682+14dup (ATP7A)	ENSP00000508627.1:n.2682+13_2682+14dup
ENST00000341514.11:c.2916+13_2916+14dup (ATP7A) MANE Select	ENSP00000345728.6:n.2916+13_2916+14dup
ENST00000644362.1:c.-19-88775_-19-88774dup (PGK1)	ENSP00000496140.1:n.-19-88775_-19-88774dup
ENST00000645094.1:c.*2830+13_*2830+14dup (ATP7A)	ENSP00000493605.1:n.*2830+13_*2830+14dup
ENST00000341514.10:c.2916+13_2916+14dup (ATP7A)	ENSP00000345728.6:n.2916+13_2916+14dup
ENST00000343533.9:c.2682+13_2682+14dup (ATP7A)	ENSP00000343026.5:n.2682+13_2682+14dup
ENST00000350425.5:c.*2089+13_*2089+14dup (ATP7A)	ENSP00000343678.5:n.*2089+13_*2089+14dup
NM_000052.6:c.2916+13_2916+14dup (ATP7A)	NP_000043.4:n.2916+13_2916+14dup
NM_001282224.1:c.2682+13_2682+14dup (ATP7A)	NP_001269153.1:n.2682+13_2682+14dup
NR_104109.1:n.322-10308_322-10307dup (ATP7A)
NM_000052.7:c.2916+13_2916+14dup (ATP7A) MANE Select	NP_000043.4:n.2916+13_2916+14dup
NR_104109.2:n.285-10308_285-10307dup (ATP7A)
NM_001282224.2:c.2682+13_2682+14dup (ATP7A)	NP_001269153.1:n.2682+13_2682+14dup