Canonical Allele Identifier: CA1978928518
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758614_64758625delinsCCTCGTCACAGG , CM000673.2:g.64758614_64758625delinsCCTCGTCACAGG GRCh38
NC_000011.9:g.64526086_64526097delinsCCTCGTCACAGG , CM000673.1:g.64526086_64526097delinsCCTCGTCACAGG GRCh37
NC_000011.8:g.64282662_64282673delinsCCTCGTCACAGG NCBI36
NG_013018.1:g.7091_7102delinsCCTGTGACGAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.323_334delinsCCTGTGACGAGG MANE Select ENSP00000164139.3:p.Ala108=
ENST00000164139.3:c.323_334delinsCCTGTGACGAGG ENSP00000164139.3:p.Ala108=
ENST00000377432.7:c.244-359_244-348delinsCCTGTGACGAGG ENSP00000366650.3:n.244-359_244-348delinsCCTGTGACGAGG
NM_001164716.1:c.244-359_244-348delinsCCTGTGACGAGG NP_001158188.1:n.244-359_244-348delinsCCTGTGACGAGG
NM_005609.2:c.323_334delinsCCTGTGACGAGG NP_005600.1:p.Ala108=
NM_005609.3:c.323_334delinsCCTGTGACGAGG NP_005600.1:p.Ala108=
NM_005609.4:c.323_334delinsCCTGTGACGAGG MANE Select NP_005600.1:p.Ala108=
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