Canonical Allele Identifier: CA599803579
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2908832
ClinVar RCV Id: RCV003603802
dbSNP Id: rs1256951903
gnomAD v2: 11-64518071-A-AG
gnomAD v4: 11-64750599-A-AG
MyVariant Identifiers: chr11:g.64518071_64518072insG (hg19) chr11:g.64750599_64750600insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750604dup , CM000673.2:g.64750604dup GRCh38
NC_000011.9:g.64518076dup , CM000673.1:g.64518076dup GRCh37
NC_000011.8:g.64274652dup NCBI36
NG_013018.1:g.15116dup

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1970-17dup MANE Select ENSP00000164139.3:n.1970-17dup
ENST00000164139.3:c.1970-17dup ENSP00000164139.3:n.1970-17dup
ENST00000377432.7:c.1706-17dup ENSP00000366650.3:n.1706-17dup
NM_001164716.1:c.1706-17dup NP_001158188.1:n.1706-17dup
NM_005609.2:c.1970-17dup NP_005600.1:n.1970-17dup
NM_005609.3:c.1970-17dup NP_005600.1:n.1970-17dup
NM_005609.4:c.1970-17dup MANE Select NP_005600.1:n.1970-17dup
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