Canonical Allele Identifier: CA2614192390
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64751418-CTG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751421_64751422del , CM000673.2:g.64751421_64751422del GRCh38
NC_000011.9:g.64518893_64518894del , CM000673.1:g.64518893_64518894del GRCh37
NC_000011.8:g.64275469_64275470del NCBI36
NG_013018.1:g.14296_14297del

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1874_1875del MANE Select ENSP00000164139.3:p.Thr625SerfsTer9
ENST00000164139.3:c.1874_1875del ENSP00000164139.3:p.Thr625SerfsTer9
ENST00000377432.7:c.1610_1611del ENSP00000366650.3:p.Thr537SerfsTer9
ENST00000462303.1:n.198_199del
NM_001164716.1:c.1610_1611del NP_001158188.1:p.Thr537SerfsTer9
NM_005609.2:c.1874_1875del NP_005600.1:p.Thr625SerfsTer9
NM_005609.3:c.1874_1875del NP_005600.1:p.Thr625SerfsTer9
NM_005609.4:c.1874_1875del MANE Select NP_005600.1:p.Thr625SerfsTer9
Search 100 bp 5'
Search 100 bp 3'