Canonical Allele Identifier: CA2580084649
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2100385
ClinVar RCV Id: RCV003014369
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753553_64753573del , CM000673.2:g.64753553_64753573del GRCh38
NC_000011.9:g.64521025_64521045del , CM000673.1:g.64521025_64521045del GRCh37
NC_000011.8:g.64277601_64277621del NCBI36
NG_013018.1:g.12146_12166del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1352_1372del MANE Select ENSP00000164139.3:p.His451_Ala457del
ENST00000164139.3:c.1352_1372del ENSP00000164139.3:p.His451_Ala457del
ENST00000377432.7:c.1088_1108del ENSP00000366650.3:p.His363_Ala369del
NM_001164716.1:c.1088_1108del NP_001158188.1:p.His363_Ala369del
NM_005609.2:c.1352_1372del NP_005600.1:p.His451_Ala457del
NM_005609.3:c.1352_1372del NP_005600.1:p.His451_Ala457del
NM_005609.4:c.1352_1372del MANE Select NP_005600.1:p.His451_Ala457del
Search 100 bp 5'
Search 100 bp 3'