Canonical Allele Identifier: CA643005303

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs1557237394
• gnomAD v2: X-77288984-GGCA-G
• gnomAD v3: X-78033486-GGCA-G
• gnomAD v4: X-78033486-GGCA-G
• MyVariant Identifiers: chrX:g.77288985_77288987del (hg19) ; chrX:g.78033487_78033489del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033487_78033489del , CM000685.2:g.78033487_78033489del	GRCh38
NC_000023.10:g.77288985_77288987del , CM000685.1:g.77288985_77288987del	GRCh37
NC_000023.9:g.77175641_77175643del	NCBI36
NG_013224.2:g.127791_127793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3325-118_3325-116del (ATP7A)	ENSP00000343026.6:n.3325-118_3325-116del
ENST00000682475.1:n.1712-118_1712-116del (ATP7A)
ENST00000685033.1:c.559-118_559-116del (ATP7A)	ENSP00000509269.1:n.559-118_559-116del
ENST00000685264.1:c.3295-118_3295-116del (ATP7A)	ENSP00000510136.1:n.3295-118_3295-116del
ENST00000686033.1:c.3100-118_3100-116del (ATP7A)	ENSP00000510693.1:n.3100-118_3100-116del
ENST00000686133.1:c.3295-118_3295-116del (ATP7A)	ENSP00000509233.1:n.3295-118_3295-116del
ENST00000686255.1:n.2326-118_2326-116del (ATP7A)
ENST00000686543.1:c.3061-118_3061-116del (ATP7A)	ENSP00000509477.1:n.3061-118_3061-116del
ENST00000687086.1:c.3295-118_3295-116del (ATP7A)	ENSP00000509566.1:n.3295-118_3295-116del
ENST00000689514.1:n.1337-118_1337-116del (ATP7A)
ENST00000689767.1:c.3388-118_3388-116del (ATP7A)	ENSP00000509406.1:n.3388-118_3388-116del
ENST00000692908.1:c.3061-118_3061-116del (ATP7A)	ENSP00000508627.1:n.3061-118_3061-116del
ENST00000341514.11:c.3295-118_3295-116del (ATP7A) MANE Select	ENSP00000345728.6:n.3295-118_3295-116del
ENST00000644362.1:c.-19-76380_-19-76378del (PGK1)	ENSP00000496140.1:n.-19-76380_-19-76378del
ENST00000645094.1:c.*3209-118_*3209-116del (ATP7A)	ENSP00000493605.1:n.*3209-118_*3209-116del
ENST00000341514.10:c.3295-118_3295-116del (ATP7A)	ENSP00000345728.6:n.3295-118_3295-116del
ENST00000343533.9:c.3061-118_3061-116del (ATP7A)	ENSP00000343026.5:n.3061-118_3061-116del
ENST00000350425.5:c.*2468-118_*2468-116del (ATP7A)	ENSP00000343678.5:n.*2468-118_*2468-116del
NM_000052.6:c.3295-118_3295-116del (ATP7A)	NP_000043.4:n.3295-118_3295-116del
NM_001282224.1:c.3061-118_3061-116del (ATP7A)	NP_001269153.1:n.3061-118_3061-116del
NR_104109.1:n.505-118_505-116del (ATP7A)
NM_000052.7:c.3295-118_3295-116del (ATP7A) MANE Select	NP_000043.4:n.3295-118_3295-116del
NR_104109.2:n.468-118_468-116del (ATP7A)
NM_001282224.2:c.3061-118_3061-116del (ATP7A)	NP_001269153.1:n.3061-118_3061-116del