Canonical Allele Identifier: CA6079660
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1608232
ClinVar RCV Id: RCV002147289
dbSNP Id: rs747398326
ExAC: 11:64518059 T / TGGGGTGGCAGCAGGGG
gnomAD v2: 11-64518059-T-TGGGGTGGCAGCAGGGG
gnomAD v4: 11-64750587-T-TGGGGTGGCAGCAGGGG
MyVariant Identifiers: chr11:g.64518059_64518060insGGGGTGGCAGCAGGGG (hg19) chr11:g.64750587_64750588insGGGGTGGCAGCAGGGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750589_64750604dup , CM000673.2:g.64750589_64750604dup GRCh38
NC_000011.9:g.64518061_64518076dup , CM000673.1:g.64518061_64518076dup GRCh37
NC_000011.8:g.64274637_64274652dup NCBI36
NG_013018.1:g.15113_15128dup

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1970-20_1970-5dup MANE Select ENSP00000164139.3:n.1970-20_1970-5dup
ENST00000164139.3:c.1970-20_1970-5dup ENSP00000164139.3:n.1970-20_1970-5dup
ENST00000377432.7:c.1706-20_1706-5dup ENSP00000366650.3:n.1706-20_1706-5dup
NM_001164716.1:c.1706-20_1706-5dup NP_001158188.1:n.1706-20_1706-5dup
NM_005609.2:c.1970-20_1970-5dup NP_005600.1:n.1970-20_1970-5dup
NM_005609.3:c.1970-20_1970-5dup NP_005600.1:n.1970-20_1970-5dup
NM_005609.4:c.1970-20_1970-5dup MANE Select NP_005600.1:n.1970-20_1970-5dup
Search 100 bp 5'
Search 100 bp 3'