Canonical Allele Identifier: CA6079880
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs760409365
ExAC: 11:64520961 GA / G
gnomAD v2: 11-64520961-GA-G
gnomAD v3: 11-64753489-GA-G
gnomAD v4: 11-64753489-GA-G
MyVariant Identifiers: chr11:g.64520962del (hg19) chr11:g.64753490del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753490del , CM000673.2:g.64753490del GRCh38
NC_000011.9:g.64520962del , CM000673.1:g.64520962del GRCh37
NC_000011.8:g.64277538del NCBI36
NG_013018.1:g.12226del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1403+29del MANE Select ENSP00000164139.3:n.1403+29del
ENST00000164139.3:c.1403+29del ENSP00000164139.3:n.1403+29del
ENST00000377432.7:c.1139+29del ENSP00000366650.3:n.1139+29del
NM_001164716.1:c.1139+29del NP_001158188.1:n.1139+29del
NM_005609.2:c.1403+29del NP_005600.1:n.1403+29del
NM_005609.3:c.1403+29del NP_005600.1:n.1403+29del
NM_005609.4:c.1403+29del MANE Select NP_005600.1:n.1403+29del
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