Canonical Allele Identifier: CA223899597
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs925174240
gnomAD v3: 11-64752711-A-AC
gnomAD v4: 11-64752711-A-AC
MyVariant Identifiers: chr11:g.64520183_64520184insC (hg19) chr11:g.64752711_64752712insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64752715dup , CM000673.2:g.64752715dup GRCh38
NC_000011.9:g.64520187dup , CM000673.1:g.64520187dup GRCh37
NC_000011.8:g.64276763dup NCBI36
NG_013018.1:g.13004dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1519-208dup MANE Select ENSP00000164139.3:n.1519-208dup
ENST00000164139.3:c.1519-208dup ENSP00000164139.3:n.1519-208dup
ENST00000377432.7:c.1255-208dup ENSP00000366650.3:n.1255-208dup
NM_001164716.1:c.1255-208dup NP_001158188.1:n.1255-208dup
NM_005609.2:c.1519-208dup NP_005600.1:n.1519-208dup
NM_005609.3:c.1519-208dup NP_005600.1:n.1519-208dup
NM_005609.4:c.1519-208dup MANE Select NP_005600.1:n.1519-208dup
Search 100 bp 5'
Search 100 bp 3'