Canonical Allele Identifier: CA1978929647
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759665_64759667delinsCTT , CM000673.2:g.64759665_64759667delinsCTT GRCh38
NC_000011.9:g.64527137_64527139delinsCTT , CM000673.1:g.64527137_64527139delinsCTT GRCh37
NC_000011.8:g.64283713_64283715delinsCTT NCBI36
NG_013018.1:g.6049_6051delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.232_234delinsAAG MANE Select ENSP00000164139.3:p.Lys78=
ENST00000164139.3:c.232_234delinsAAG ENSP00000164139.3:p.Lys78=
ENST00000377432.7:c.232_234delinsAAG ENSP00000366650.3:p.Lys78=
NM_001164716.1:c.232_234delinsAAG NP_001158188.1:p.Lys78=
NM_005609.2:c.232_234delinsAAG NP_005600.1:p.Lys78=
NM_005609.3:c.232_234delinsAAG NP_005600.1:p.Lys78=
NM_005609.4:c.232_234delinsAAG MANE Select NP_005600.1:p.Lys78=