Canonical Allele Identifier: CA2646028484
Gene: PGM1 HGNC NCBI

Linked Data

gnomAD v4: 1-63629529-T-TCA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629532_63629533dup , CM000663.2:g.63629532_63629533dup GRCh38
NC_000001.10:g.64095203_64095204dup , CM000663.1:g.64095203_64095204dup GRCh37
NC_000001.9:g.63867791_63867792dup NCBI36
NG_016966.1:g.41257_41258dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.354_355dup MANE Select ENSP00000360125.3:p.Asn119ThrfsTer26
ENST00000650546.1:c.354_355dup ENSP00000497812.1:p.Asn119ThrfsTer26
ENST00000371083.4:c.408_409dup ENSP00000360124.4:p.Asn137ThrfsTer26
ENST00000371084.7:c.354_355dup ENSP00000360125.3:p.Asn119ThrfsTer26
ENST00000540265.5:c.-238_-237dup ENSP00000443449.1:n.-238_-237dup
NM_001172818.1:c.408_409dup NP_001166289.1:p.Asn137ThrfsTer26
NM_001172819.1:c.-238_-237dup NP_001166290.1:n.-238_-237dup
NM_002633.2:c.354_355dup NP_002624.2:p.Asn119ThrfsTer26
NM_002633.3:c.354_355dup MANE Select NP_002624.2:p.Asn119ThrfsTer26
NM_001172819.2:c.-238_-237dup NP_001166290.1:n.-238_-237dup
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