Canonical Allele Identifier: CA10603264
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 280234
ClinVar RCV Id: RCV000341453 RCV001387933
dbSNP Id: rs886041476
MyVariant Identifiers: chr11:g.64520597dupG (hg19) chr11:g.64520596_64520597insG (hg19) chr11:g.64753125dupG (hg38) chr11:g.64753124_64753125insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753128dup , CM000673.2:g.64753128dup GRCh38
NC_000011.9:g.64520600dup , CM000673.1:g.64520600dup GRCh37
NC_000011.8:g.64277176dup NCBI36
NG_013018.1:g.12591dup

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1466dup MANE Select ENSP00000164139.3:p.Arg490SerfsTer8
ENST00000164139.3:c.1466dup ENSP00000164139.3:p.Arg490SerfsTer8
ENST00000377432.7:c.1202dup ENSP00000366650.3:p.Arg402SerfsTer8
NM_001164716.1:c.1202dup NP_001158188.1:p.Arg402SerfsTer8
NM_005609.2:c.1466dup NP_005600.1:p.Arg490SerfsTer8
NM_005609.3:c.1466dup NP_005600.1:p.Arg490SerfsTer8
NM_005609.4:c.1466dup MANE Select NP_005600.1:p.Arg490SerfsTer8
Search 100 bp 5'
Search 100 bp 3'