Canonical Allele Identifier: CA345698
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 139609
ClinVar RCV Id: RCV000128553
dbSNP Id: rs527236147

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750427_64750429del , CM000673.2:g.64750427_64750429del GRCh38
NC_000011.9:g.64517899_64517901del , CM000673.1:g.64517899_64517901del GRCh37
NC_000011.8:g.64274475_64274477del NCBI36
NG_007574.1:g.32_34del , LRG_100:g.32_34del
NG_013018.1:g.15291_15293del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2128_2130del MANE Select ENSP00000164139.3:p.Phe710del
ENST00000164139.3:c.2128_2130del ENSP00000164139.3:p.Phe710del
ENST00000377432.7:c.1864_1866del ENSP00000366650.3:p.Phe622del
NM_001164716.1:c.1864_1866del NP_001158188.1:p.Phe622del
NM_005609.2:c.2128_2130del NP_005600.1:p.Phe710del
NM_005609.3:c.2128_2130del NP_005600.1:p.Phe710del
NM_005609.4:c.2128_2130del MANE Select NP_005600.1:p.Phe710del