Canonical Allele Identifier: CA2206128175

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797762_8797763delinsAT , CM000678.2:g.8797762_8797763delinsAT	GRCh38
NC_000016.9:g.8891619_8891620delinsAT , CM000678.1:g.8891619_8891620delinsAT	GRCh37
NC_000016.8:g.8799120_8799121delinsAT	NCBI36
NG_009209.1:g.4950_4951delinsAT
NG_033146.1:g.4886_4887delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.-121_-120delinsAT	ENSP00000507849.1:n.-121_-120delinsAT
ENST00000566983.5:c.-15-4037_-15-4036delinsAT	ENSP00000457956.1:n.-15-4037_-15-4036delinsAT