Canonical Allele Identifier: CA599653901
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1250584495
gnomAD v2: 11-64526242-AGCCAC-A
gnomAD v3: 11-64758770-AGCCAC-A
gnomAD v4: 11-64758770-AGCCAC-A
MyVariant Identifiers: chr11:g.64526243_64526247del (hg19) chr11:g.64758771_64758775del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758774_64758778del , CM000673.2:g.64758774_64758778del GRCh38
NC_000011.9:g.64526246_64526250del , CM000673.1:g.64526246_64526250del GRCh37
NC_000011.8:g.64282822_64282826del NCBI36
NG_013018.1:g.6941_6945del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.244-71_244-67del MANE Select ENSP00000164139.3:n.244-71_244-67del
ENST00000164139.3:c.244-71_244-67del ENSP00000164139.3:n.244-71_244-67del
ENST00000377432.7:c.244-509_244-505del ENSP00000366650.3:n.244-509_244-505del
NM_001164716.1:c.244-509_244-505del NP_001158188.1:n.244-509_244-505del
NM_005609.2:c.244-71_244-67del NP_005600.1:n.244-71_244-67del
NM_005609.3:c.244-71_244-67del NP_005600.1:n.244-71_244-67del
NM_005609.4:c.244-71_244-67del MANE Select NP_005600.1:n.244-71_244-67del
Search 100 bp 5'
Search 100 bp 3'