Canonical Allele Identifier: CA10459207

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs781954889
• ExAC: X:77267200 TTAA / T
• gnomAD v2: X-77267200-TTAA-T
• gnomAD v3: X-78011703-TTAA-T
• gnomAD v4: X-78011703-TTAA-T
• MyVariant Identifiers: chrX:g.77267201_77267203del (hg19) ; chrX:g.78011704_78011706del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011710_78011712del , CM000685.2:g.78011710_78011712del	GRCh38
NC_000023.10:g.77267207_77267209del , CM000685.1:g.77267207_77267209del	GRCh37
NC_000023.9:g.77153863_77153865del	NCBI36
NG_013224.2:g.106014_106016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2202+36_2202+38del (ATP7A)	ENSP00000343026.6:n.2202+36_2202+38del
ENST00000682475.1:n.823+36_823+38del (ATP7A)
ENST00000685264.1:c.2172+36_2172+38del (ATP7A)	ENSP00000510136.1:n.2172+36_2172+38del
ENST00000686033.1:c.2172+36_2172+38del (ATP7A)	ENSP00000510693.1:n.2172+36_2172+38del
ENST00000686133.1:c.2172+36_2172+38del (ATP7A)	ENSP00000509233.1:n.2172+36_2172+38del
ENST00000686255.1:n.1203+36_1203+38del (ATP7A)
ENST00000686480.1:c.2172+36_2172+38del (ATP7A)	ENSP00000508978.1:n.2172+36_2172+38del
ENST00000686515.1:n.2312+36_2312+38del (ATP7A)
ENST00000686543.1:c.2172+36_2172+38del (ATP7A)	ENSP00000509477.1:n.2172+36_2172+38del
ENST00000686688.1:c.2172+36_2172+38del (ATP7A)	ENSP00000509416.1:n.2172+36_2172+38del
ENST00000686999.1:n.2519_2521del (ATP7A)
ENST00000687086.1:c.2172+36_2172+38del (ATP7A)	ENSP00000509566.1:n.2172+36_2172+38del
ENST00000687628.1:n.4417_4419del (ATP7A)
ENST00000688746.1:n.2360_2362del (ATP7A)
ENST00000689514.1:n.214+36_214+38del (ATP7A)
ENST00000689530.1:c.2172+36_2172+38del (ATP7A)	ENSP00000509707.1:n.2172+36_2172+38del
ENST00000689649.1:c.2172+36_2172+38del (ATP7A)	ENSP00000509277.1:n.2172+36_2172+38del
ENST00000689767.1:c.2265+36_2265+38del (ATP7A)	ENSP00000509406.1:n.2265+36_2265+38del
ENST00000689872.1:c.*121+36_*121+38del (ATP7A)	ENSP00000509373.1:n.*121+36_*121+38del
ENST00000692908.1:c.2172+36_2172+38del (ATP7A)	ENSP00000508627.1:n.2172+36_2172+38del
ENST00000693398.1:c.2172+36_2172+38del (ATP7A)	ENSP00000510089.1:n.2172+36_2172+38del
ENST00000341514.11:c.2172+36_2172+38del (ATP7A) MANE Select	ENSP00000345728.6:n.2172+36_2172+38del
ENST00000644362.1:c.-19-98157_-19-98155del (PGK1)	ENSP00000496140.1:n.-19-98157_-19-98155del
ENST00000645094.1:c.*2086+36_*2086+38del (ATP7A)	ENSP00000493605.1:n.*2086+36_*2086+38del
ENST00000341514.10:c.2172+36_2172+38del (ATP7A)	ENSP00000345728.6:n.2172+36_2172+38del
ENST00000343533.9:c.2172+36_2172+38del (ATP7A)	ENSP00000343026.5:n.2172+36_2172+38del
ENST00000350425.5:c.*1345+36_*1345+38del (ATP7A)	ENSP00000343678.5:n.*1345+36_*1345+38del
NM_000052.6:c.2172+36_2172+38del (ATP7A)	NP_000043.4:n.2172+36_2172+38del
NM_001282224.1:c.2172+36_2172+38del (ATP7A)	NP_001269153.1:n.2172+36_2172+38del
NR_104109.1:n.322-19690_322-19688del (ATP7A)
NM_000052.7:c.2172+36_2172+38del (ATP7A) MANE Select	NP_000043.4:n.2172+36_2172+38del
NR_104109.2:n.285-19690_285-19688del (ATP7A)
NM_001282224.2:c.2172+36_2172+38del (ATP7A)	NP_001269153.1:n.2172+36_2172+38del