Canonical Allele Identifier: CA16041494
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 371165
ClinVar RCV Id: RCV000411646
dbSNP Id: rs1057517058
MyVariant Identifiers: chr11:g.64514764_64514777del (hg19) chr11:g.64747292_64747305del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747292_64747305del , CM000673.2:g.64747292_64747305del GRCh38
NC_000011.9:g.64514764_64514777del , CM000673.1:g.64514764_64514777del GRCh37
NC_000011.8:g.64271340_64271353del NCBI36
NG_007574.1:g.3152_3165del , LRG_100:g.3152_3165del
NG_013018.1:g.18411_18424del

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2231_2244del MANE Select ENSP00000164139.3:p.Glu744GlyfsTer22
ENST00000164139.3:c.2231_2244del ENSP00000164139.3:p.Glu744GlyfsTer22
ENST00000377432.7:c.1967_1980del ENSP00000366650.3:p.Glu656GlyfsTer22
ENST00000483742.1:n.1584_1597del
NM_001164716.1:c.1967_1980del NP_001158188.1:p.Glu656GlyfsTer22
NM_005609.2:c.2231_2244del NP_005600.1:p.Glu744GlyfsTer22
NM_005609.3:c.2231_2244del NP_005600.1:p.Glu744GlyfsTer22
NM_005609.4:c.2231_2244del MANE Select NP_005600.1:p.Glu744GlyfsTer22
Search 100 bp 5'
Search 100 bp 3'