Canonical Allele Identifier: CA6080278
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs752105014
ExAC: 11:64525989 TGGA / T
gnomAD v2: 11-64525989-TGGA-T
gnomAD v4: 11-64758517-TGGA-T
MyVariant Identifiers: chr11:g.64525990_64525992del (hg19) chr11:g.64758518_64758520del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758522_64758524del , CM000673.2:g.64758522_64758524del GRCh38
NC_000011.9:g.64525994_64525996del , CM000673.1:g.64525994_64525996del GRCh37
NC_000011.8:g.64282570_64282572del NCBI36
NG_013018.1:g.7196_7198del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.346-5_346-3del MANE Select ENSP00000164139.3:n.346-5_346-3del
ENST00000164139.3:c.346-5_346-3del ENSP00000164139.3:n.346-5_346-3del
ENST00000377432.7:c.244-254_244-252del ENSP00000366650.3:n.244-254_244-252del
NM_001164716.1:c.244-254_244-252del NP_001158188.1:n.244-254_244-252del
NM_005609.2:c.346-5_346-3del NP_005600.1:n.346-5_346-3del
NM_005609.3:c.346-5_346-3del NP_005600.1:n.346-5_346-3del
NM_005609.4:c.346-5_346-3del MANE Select NP_005600.1:n.346-5_346-3del
Search 100 bp 5'
Search 100 bp 3'