Canonical Allele Identifier: CA222888
Gene: PYGM HGNC NCBI
gnomAD v2:
11:64514745 GT / G
gnomAD v3:
11:64747273 GT / G
gnomAD v4:
chr11-64747273-GT-G
Joint Max Group AF 0.00020842 (SAS)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00022074 (SAS)
ClinVar RCV:
RCV000081311
RCV000175318
ClinVar Variation:
95296
dbSNP:
398124210
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747276del , CM000673.2:g.64747276del GRCh38
NC_000011.9:g.64514748del , CM000673.1:g.64514748del GRCh37
NC_000011.8:g.64271324del NCBI36
NG_007574.1:g.3183del , LRG_100:g.3183del
NG_013018.1:g.18442del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2262del MANE Select ENSP00000164139.3:p.Lys754AsnfsTer?
ENST00000164139.3:c.2262del ENSP00000164139.3:p.Lys754AsnfsTer?
ENST00000377432.7:c.1998del ENSP00000366650.3:p.Lys666AsnfsTer?
ENST00000483742.1:n.1615del
NM_001164716.1:c.1998del NP_001158188.1:p.Lys666AsnfsTer?
NM_005609.2:c.2262del NP_005600.1:p.Lys754AsnfsTer?
NM_005609.3:c.2262del NP_005600.1:p.Lys754AsnfsTer?
NM_005609.4:c.2262del MANE Select NP_005600.1:p.Lys754AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'