Canonical Allele Identifier: CA1978929671
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs2058420453
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759675_64759676del , CM000673.2:g.64759675_64759676del GRCh38
NC_000011.9:g.64527147_64527148del , CM000673.1:g.64527147_64527148del GRCh37
NC_000011.8:g.64283723_64283724del NCBI36
NG_013018.1:g.6040_6041del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.223_224del MANE Select ENSP00000164139.3:p.Tyr75LeufsTer2
ENST00000164139.3:c.223_224del ENSP00000164139.3:p.Tyr75LeufsTer2
ENST00000377432.7:c.223_224del ENSP00000366650.3:p.Tyr75LeufsTer2
NM_001164716.1:c.223_224del NP_001158188.1:p.Tyr75LeufsTer2
NM_005609.2:c.223_224del NP_005600.1:p.Tyr75LeufsTer2
NM_005609.3:c.223_224del NP_005600.1:p.Tyr75LeufsTer2
NM_005609.4:c.223_224del MANE Select NP_005600.1:p.Tyr75LeufsTer2
Search 100 bp 5'
Search 100 bp 3'