Canonical Allele Identifier: CA658822244
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 551114
ClinVar RCV Id: RCV000666086
dbSNP Id: rs1555136828
gnomAD v4: 11-64759823-TCACGTTCTC-T
MyVariant Identifiers: chr11:g.64759824_64759832del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759828_64759836del , CM000673.2:g.64759828_64759836del GRCh38
NC_000011.9:g.64527300_64527308del , CM000673.1:g.64527300_64527308del GRCh37
NC_000011.8:g.64283876_64283884del NCBI36
NG_013018.1:g.5884_5892del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.67_75del MANE Select ENSP00000164139.3:p.Glu23_Val25del
ENST00000164139.3:c.67_75del ENSP00000164139.3:p.Glu23_Val25del
ENST00000377432.7:c.67_75del ENSP00000366650.3:p.Glu23_Val25del
NM_001164716.1:c.67_75del NP_001158188.1:p.Glu23_Val25del
NM_005609.2:c.67_75del NP_005600.1:p.Glu23_Val25del
NM_005609.3:c.67_75del NP_005600.1:p.Glu23_Val25del
NM_005609.4:c.67_75del MANE Select NP_005600.1:p.Glu23_Val25del
Search 100 bp 5'
Search 100 bp 3'