Canonical Allele Identifier: CA1978930124
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759921_64759929delinsCTGGACTGA , CM000673.2:g.64759921_64759929delinsCTGGACTGA GRCh38
NC_000011.9:g.64527393_64527401delinsCTGGACTGA , CM000673.1:g.64527393_64527401delinsCTGGACTGA GRCh37
NC_000011.8:g.64283969_64283977delinsCTGGACTGA NCBI36
NG_013018.1:g.5787_5795delinsTCAGTCCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.-31_-23delinsTCAGTCCAG MANE Select ENSP00000164139.3:n.-31_-23delinsTCAGTCCAG
ENST00000164139.3:c.-31_-23delinsTCAGTCCAG ENSP00000164139.3:n.-31_-23delinsTCAGTCCAG
ENST00000377432.7:c.-31_-23delinsTCAGTCCAG ENSP00000366650.3:n.-31_-23delinsTCAGTCCAG
NM_001164716.1:c.-31_-23delinsTCAGTCCAG NP_001158188.1:n.-31_-23delinsTCAGTCCAG
NM_005609.2:c.-31_-23delinsTCAGTCCAG NP_005600.1:n.-31_-23delinsTCAGTCCAG
NM_005609.3:c.-31_-23delinsTCAGTCCAG NP_005600.1:n.-31_-23delinsTCAGTCCAG
NM_005609.4:c.-31_-23delinsTCAGTCCAG MANE Select NP_005600.1:n.-31_-23delinsTCAGTCCAG