Canonical Allele Identifier: CA938841222
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs2058411355
gnomAD v3: 11-64758614-CCTCGTCACAGG-C
gnomAD v4: 11-64758614-CCTCGTCACAGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758616_64758626del , CM000673.2:g.64758616_64758626del GRCh38
NC_000011.9:g.64526088_64526098del , CM000673.1:g.64526088_64526098del GRCh37
NC_000011.8:g.64282664_64282674del NCBI36
NG_013018.1:g.7091_7101del

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.323_333del MANE Select ENSP00000164139.3:p.Ala108GlyfsTer16
ENST00000164139.3:c.323_333del ENSP00000164139.3:p.Ala108GlyfsTer16
ENST00000377432.7:c.244-359_244-349del ENSP00000366650.3:n.244-359_244-349del
NM_001164716.1:c.244-359_244-349del NP_001158188.1:n.244-359_244-349del
NM_005609.2:c.323_333del NP_005600.1:p.Ala108GlyfsTer16
NM_005609.3:c.323_333del NP_005600.1:p.Ala108GlyfsTer16
NM_005609.4:c.323_333del MANE Select NP_005600.1:p.Ala108GlyfsTer16
Search 100 bp 5'
Search 100 bp 3'