Canonical Allele Identifier: CA1978928115
Gene: PYGM HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758262_64758265delinsATCT , CM000673.2:g.64758262_64758265delinsATCT GRCh38
NC_000011.9:g.64525734_64525737delinsATCT , CM000673.1:g.64525734_64525737delinsATCT GRCh37
NC_000011.8:g.64282310_64282313delinsATCT NCBI36
NG_013018.1:g.7451_7454delinsAGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.509_512delinsAGAT MANE Select ENSP00000164139.3:p.Lys170=
ENST00000164139.3:c.509_512delinsAGAT ENSP00000164139.3:p.Lys170=
ENST00000377432.7:c.245_248delinsAGAT ENSP00000366650.3:p.Lys82=
NM_001164716.1:c.245_248delinsAGAT NP_001158188.1:p.Lys82=
NM_005609.2:c.509_512delinsAGAT NP_005600.1:p.Lys170=
NM_005609.3:c.509_512delinsAGAT NP_005600.1:p.Lys170=
NM_005609.4:c.509_512delinsAGAT MANE Select NP_005600.1:p.Lys170=
Search 100 bp 5'
Search 100 bp 3'