Canonical Allele Identifier: CA2614192088
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759917del , CM000673.2:g.64759917del GRCh38
NC_000011.9:g.64527389del , CM000673.1:g.64527389del GRCh37
NC_000011.8:g.64283965del NCBI36
NG_013018.1:g.5800del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.-18del MANE Select ENSP00000164139.3:n.-18del
ENST00000164139.3:c.-18del ENSP00000164139.3:n.-18del
ENST00000377432.7:c.-18del ENSP00000366650.3:n.-18del
NM_001164716.1:c.-18del NP_001158188.1:n.-18del
NM_005609.2:c.-18del NP_005600.1:n.-18del
NM_005609.3:c.-18del NP_005600.1:n.-18del
NM_005609.4:c.-18del MANE Select NP_005600.1:n.-18del