Canonical Allele Identifier: CA974429340

Gene: PMM2

Linked Data

• gnomAD v3: 16-8848061-CACCCA-C
• gnomAD v4: 16-8848061-CACCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848062_8848066del , CM000678.2:g.8848062_8848066del	GRCh38
NC_000016.9:g.8941919_8941923del , CM000678.1:g.8941919_8941923del	GRCh37
NC_000016.8:g.8849420_8849424del	NCBI36
NG_009209.1:g.55250_55254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4146_4150del
ENST00000682393.1:c.*258-1307_*258-1303del	ENSP00000506774.1:n.*258-1307_*258-1303del
ENST00000683094.1:c.*262-1307_*262-1303del	ENSP00000508230.1:n.*262-1307_*262-1303del
ENST00000683274.1:c.*180-1307_*180-1303del	ENSP00000507262.1:n.*180-1307_*180-1303del
ENST00000268261.9:c.*237_*241del MANE Select	ENSP00000268261.4:n.*237_*241del
ENST00000268261.8:c.*237_*241del	ENSP00000268261.4:n.*237_*241del
ENST00000562025.1:n.512_516del
ENST00000566540.5:c.*600_*604del	ENSP00000454284.1:n.*600_*604del
ENST00000566604.5:c.*518_*522del	ENSP00000456774.1:n.*518_*522del
ENST00000567697.1:n.4146_4150del
ENST00000570076.5:c.*436_*440del	ENSP00000456961.1:n.*436_*440del
NM_000303.2:c.*237_*241del	NP_000294.1:n.*237_*241del
XM_005255374.3:c.*237_*241del	XP_005255431.1:n.*237_*241del
XM_011522538.1:c.640-6972_640-6968del	XP_011520840.1:n.640-6972_640-6968del
XM_005255374.4:c.*237_*241del	XP_005255431.1:n.*237_*241del
NM_000303.3:c.*237_*241del MANE Select	NP_000294.1:n.*237_*241del