Canonical Allele Identifier: CA2557192712
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64759864-TTTC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759867_64759869del , CM000673.2:g.64759867_64759869del GRCh38
NC_000011.9:g.64527339_64527341del , CM000673.1:g.64527339_64527341del GRCh37
NC_000011.8:g.64283915_64283917del NCBI36
NG_013018.1:g.5849_5851del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.32_34del MANE Select ENSP00000164139.3:p.Arg11del
ENST00000164139.3:c.32_34del ENSP00000164139.3:p.Arg11del
ENST00000377432.7:c.32_34del ENSP00000366650.3:p.Arg11del
NM_001164716.1:c.32_34del NP_001158188.1:p.Arg11del
NM_005609.2:c.32_34del NP_005600.1:p.Arg11del
NM_005609.3:c.32_34del NP_005600.1:p.Arg11del
NM_005609.4:c.32_34del MANE Select NP_005600.1:p.Arg11del
Search 100 bp 5'
Search 100 bp 3'