Canonical Allele Identifier: CA1978929595
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs2058419777
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759642del , CM000673.2:g.64759642del GRCh38
NC_000011.9:g.64527114del , CM000673.1:g.64527114del GRCh37
NC_000011.8:g.64283690del NCBI36
NG_013018.1:g.6074del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.243+14del MANE Select ENSP00000164139.3:n.243+14del
ENST00000164139.3:c.243+14del ENSP00000164139.3:n.243+14del
ENST00000377432.7:c.243+14del ENSP00000366650.3:n.243+14del
NM_001164716.1:c.243+14del NP_001158188.1:n.243+14del
NM_005609.2:c.243+14del NP_005600.1:n.243+14del
NM_005609.3:c.243+14del NP_005600.1:n.243+14del
NM_005609.4:c.243+14del MANE Select NP_005600.1:n.243+14del
Search 100 bp 5'
Search 100 bp 3'