Canonical Allele Identifier: CA2631646062

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847579-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847581del , CM000678.2:g.8847581del	GRCh38
NC_000016.9:g.8941438del , CM000678.1:g.8941438del	GRCh37
NC_000016.8:g.8848939del	NCBI36
NG_009209.1:g.54769del

Transcript Alleles

HGVS	Amino-acid change
ENST00000567697.2:n.3808-143del
ENST00000682393.1:c.*258-1788del	ENSP00000506774.1:n.*258-1788del
ENST00000683094.1:c.*262-1788del	ENSP00000508230.1:n.*262-1788del
ENST00000683274.1:c.*180-1788del	ENSP00000507262.1:n.*180-1788del
ENST00000683435.1:c.*536-143del	ENSP00000508092.1:n.*536-143del
ENST00000268261.9:c.640-143del MANE Select	ENSP00000268261.4:n.640-143del
ENST00000268261.8:c.640-143del	ENSP00000268261.4:n.640-143del
ENST00000562025.1:n.174-143del
ENST00000562318.5:c.*362-143del	ENSP00000454395.1:n.*362-143del
ENST00000565221.5:c.*258-143del	ENSP00000457932.1:n.*258-143del
ENST00000566540.5:c.*262-143del	ENSP00000454284.1:n.*262-143del
ENST00000566604.5:c.*180-143del	ENSP00000456774.1:n.*180-143del
ENST00000566983.5:c.559-143del	ENSP00000457956.1:n.559-143del
ENST00000567697.1:n.3808-143del
ENST00000569958.5:c.367-143del	ENSP00000456302.1:n.367-143del
ENST00000570076.5:c.*98-143del	ENSP00000456961.1:n.*98-143del
NM_000303.2:c.640-143del	NP_000294.1:n.640-143del
XM_005255374.3:c.391-143del	XP_005255431.1:n.391-143del
XM_011522538.1:c.640-7453del	XP_011520840.1:n.640-7453del
XM_005255374.4:c.391-143del	XP_005255431.1:n.391-143del
NM_000303.3:c.640-143del MANE Select	NP_000294.1:n.640-143del