Canonical Allele Identifier: CA1978929668
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759674_64759676delinsGTA , CM000673.2:g.64759674_64759676delinsGTA GRCh38
NC_000011.9:g.64527146_64527148delinsGTA , CM000673.1:g.64527146_64527148delinsGTA GRCh37
NC_000011.8:g.64283722_64283724delinsGTA NCBI36
NG_013018.1:g.6040_6042delinsTAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.223_225delinsTAC MANE Select ENSP00000164139.3:p.Tyr75=
ENST00000164139.3:c.223_225delinsTAC ENSP00000164139.3:p.Tyr75=
ENST00000377432.7:c.223_225delinsTAC ENSP00000366650.3:p.Tyr75=
NM_001164716.1:c.223_225delinsTAC NP_001158188.1:p.Tyr75=
NM_005609.2:c.223_225delinsTAC NP_005600.1:p.Tyr75=
NM_005609.3:c.223_225delinsTAC NP_005600.1:p.Tyr75=
NM_005609.4:c.223_225delinsTAC MANE Select NP_005600.1:p.Tyr75=
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