Canonical Allele Identifier: CA6080315
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1373318
ClinVar RCV Id: RCV001875127
dbSNP Id: rs757762109
ExAC: 11:64526158 AAG / A
gnomAD v2: 11-64526158-AAG-A
MyVariant Identifiers: chr11:g.64526159_64526160del (hg19) chr11:g.64758687_64758688del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758688_64758689del , CM000673.2:g.64758688_64758689del GRCh38
NC_000011.9:g.64526160_64526161del , CM000673.1:g.64526160_64526161del GRCh37
NC_000011.8:g.64282736_64282737del NCBI36
NG_013018.1:g.7028_7029del

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.260_261del MANE Select ENSP00000164139.3:p.Ser87PhefsTer23
ENST00000164139.3:c.260_261del ENSP00000164139.3:p.Ser87PhefsTer23
ENST00000377432.7:c.244-422_244-421del ENSP00000366650.3:n.244-422_244-421del
NM_001164716.1:c.244-422_244-421del NP_001158188.1:n.244-422_244-421del
NM_005609.2:c.260_261del NP_005600.1:p.Ser87PhefsTer23
NM_005609.3:c.260_261del NP_005600.1:p.Ser87PhefsTer23
NM_005609.4:c.260_261del MANE Select NP_005600.1:p.Ser87PhefsTer23
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