Canonical Allele Identifier: CA2697552464
Gene: PGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2724529
ClinVar RCV Id: RCV003538888
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629443_63629444delinsTT , CM000663.2:g.63629443_63629444delinsTT GRCh38
NC_000001.10:g.64095114_64095115delinsTT , CM000663.1:g.64095114_64095115delinsTT GRCh37
NC_000001.9:g.63867702_63867703delinsTT NCBI36
NG_016966.1:g.41168_41169delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000371084.8:c.265_266delinsTT MANE Select ENSP00000360125.3:p.Gly89Leu
ENST00000650546.1:c.265_266delinsTT ENSP00000497812.1:p.Gly89Leu
ENST00000371083.4:c.319_320delinsTT ENSP00000360124.4:p.Gly107Leu
ENST00000371084.7:c.265_266delinsTT ENSP00000360125.3:p.Gly89Leu
ENST00000540265.5:c.-327_-326delinsTT ENSP00000443449.1:n.-327_-326delinsTT
NM_001172818.1:c.319_320delinsTT NP_001166289.1:p.Gly107Leu
NM_001172819.1:c.-327_-326delinsTT NP_001166290.1:n.-327_-326delinsTT
NM_002633.2:c.265_266delinsTT NP_002624.2:p.Gly89Leu
NM_002633.3:c.265_266delinsTT MANE Select NP_002624.2:p.Gly89Leu
NM_001172819.2:c.-327_-326delinsTT NP_001166290.1:n.-327_-326delinsTT
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