Canonical Allele Identifier: CA2805787357
Gene: PMM2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797704_8797705insTTCTGGCCTGCCCCGAAGATTAACTCGGGCCTGGTGGGTTTCCGCATGCGCGAGGAGCCGCTCTCTAC , CM000678.2:g.8797704_8797705insTTCTGGCCTGCCCCGAAGATTAACTCGGGCCTGGTGGGTTTCCGCATGCGCGAGGAGCCGCTCTCTAC GRCh38
NC_000016.9:g.8891561_8891562insTTCTGGCCTGCCCCGAAGATTAACTCGGGCCTGGTGGGTTTCCGCATGCGCGAGGAGCCGCTCTCTAC , CM000678.1:g.8891561_8891562insTTCTGGCCTGCCCCGAAGATTAACTCGGGCCTGGTGGGTTTCCGCATGCGCGAGGAGCCGCTCTCTAC GRCh37
NC_000016.8:g.8799062_8799063insTTCTGGCCTGCCCCGAAGATTAACTCGGGCCTGGTGGGTTTCCGCATGCGCGAGGAGCCGCTCTCTAC NCBI36
NG_009209.1:g.4892_4893insTTCTGGCCTGCCCCGAAGATTAACTCGGGCCTGGTGGGTTTCCGCATGCGCGAGGAGCCGCTCTCTAC
NG_033146.1:g.4944_4945insGTAGAGAGCGGCTCCTCGCGCATGCGGAAACCCACCAGGCCCGAGTTAATCTTCGGGGCAGGCCAGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4095_-15-4094insTTCTGGCCTGCCCCGAAGATTAACTCGGGCCTGGTGGGTTTCCGCATGCGCGAGGAGCCGCTCTCTAC ENSP00000457956.1:n.-15-4095_-15-4094insTTCTGGCCTGCCCCGAAGATT...
Search 100 bp 5'
Search 100 bp 3'