Canonical Allele Identifier: CA2695214464
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64746963_64746965del , CM000673.2:g.64746963_64746965del GRCh38
NC_000011.9:g.64514435_64514437del , CM000673.1:g.64514435_64514437del GRCh37
NC_000011.8:g.64271011_64271013del NCBI36
NG_007574.1:g.3494_3496del , LRG_100:g.3494_3496del
NG_013018.1:g.18753_18755del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2337_2339del MANE Select ENSP00000164139.3:p.Glu779del
ENST00000164139.3:c.2337_2339del ENSP00000164139.3:p.Glu779del
ENST00000377432.7:c.2073_2075del ENSP00000366650.3:p.Glu691del
ENST00000483742.1:n.1690_1692del
NM_001164716.1:c.2073_2075del NP_001158188.1:p.Glu691del
NM_005609.2:c.2337_2339del NP_005600.1:p.Glu779del
NM_005609.3:c.2337_2339del NP_005600.1:p.Glu779del
NM_005609.4:c.2337_2339del MANE Select NP_005600.1:p.Glu779del
Search 100 bp 5'
Search 100 bp 3'