Canonical Allele Identifier: CA2614196756
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753288del , CM000673.2:g.64753288del GRCh38
NC_000011.9:g.64520760del , CM000673.1:g.64520760del GRCh37
NC_000011.8:g.64277336del NCBI36
NG_013018.1:g.12431del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1404-98del MANE Select ENSP00000164139.3:n.1404-98del
ENST00000164139.3:c.1404-98del ENSP00000164139.3:n.1404-98del
ENST00000377432.7:c.1140-98del ENSP00000366650.3:n.1140-98del
NM_001164716.1:c.1140-98del NP_001158188.1:n.1140-98del
NM_005609.2:c.1404-98del NP_005600.1:n.1404-98del
NM_005609.3:c.1404-98del NP_005600.1:n.1404-98del
NM_005609.4:c.1404-98del MANE Select NP_005600.1:n.1404-98del