Canonical Allele Identifier: CA2580084728
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2202416
ClinVar RCV Id: RCV002629973
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758585_64758586delinsTT , CM000673.2:g.64758585_64758586delinsTT GRCh38
NC_000011.9:g.64526057_64526058delinsTT , CM000673.1:g.64526057_64526058delinsTT GRCh37
NC_000011.8:g.64282633_64282634delinsTT NCBI36
NG_013018.1:g.7130_7131delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.345+17_345+18delinsAA MANE Select ENSP00000164139.3:n.345+17_345+18delinsAA
ENST00000164139.3:c.345+17_345+18delinsAA ENSP00000164139.3:n.345+17_345+18delinsAA
ENST00000377432.7:c.244-320_244-319delinsAA ENSP00000366650.3:n.244-320_244-319delinsAA
NM_001164716.1:c.244-320_244-319delinsAA NP_001158188.1:n.244-320_244-319delinsAA
NM_005609.2:c.345+17_345+18delinsAA NP_005600.1:n.345+17_345+18delinsAA
NM_005609.3:c.345+17_345+18delinsAA NP_005600.1:n.345+17_345+18delinsAA
NM_005609.4:c.345+17_345+18delinsAA MANE Select NP_005600.1:n.345+17_345+18delinsAA
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