Canonical Allele Identifier: CA2999504430

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847701_8847703del , CM000678.2:g.8847701_8847703del	GRCh38
NC_000016.9:g.8941558_8941560del , CM000678.1:g.8941558_8941560del	GRCh37
NC_000016.8:g.8849059_8849061del	NCBI36
NG_009209.1:g.54889_54891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3808-23_3808-21del
ENST00000682393.1:c.*258-1668_*258-1666del	ENSP00000506774.1:n.*258-1668_*258-1666del
ENST00000683094.1:c.*262-1668_*262-1666del	ENSP00000508230.1:n.*262-1668_*262-1666del
ENST00000683274.1:c.*180-1668_*180-1666del	ENSP00000507262.1:n.*180-1668_*180-1666del
ENST00000683435.1:c.*536-23_*536-21del	ENSP00000508092.1:n.*536-23_*536-21del
ENST00000268261.9:c.640-23_640-21del MANE Select	ENSP00000268261.4:n.640-23_640-21del
ENST00000268261.8:c.640-23_640-21del	ENSP00000268261.4:n.640-23_640-21del
ENST00000562025.1:n.174-23_174-21del
ENST00000562318.5:c.*362-23_*362-21del	ENSP00000454395.1:n.*362-23_*362-21del
ENST00000565221.5:c.*258-23_*258-21del	ENSP00000457932.1:n.*258-23_*258-21del
ENST00000566540.5:c.*262-23_*262-21del	ENSP00000454284.1:n.*262-23_*262-21del
ENST00000566604.5:c.*180-23_*180-21del	ENSP00000456774.1:n.*180-23_*180-21del
ENST00000566983.5:c.559-23_559-21del	ENSP00000457956.1:n.559-23_559-21del
ENST00000567697.1:n.3808-23_3808-21del
ENST00000569958.5:c.367-23_367-21del	ENSP00000456302.1:n.367-23_367-21del
ENST00000570076.5:c.*98-23_*98-21del	ENSP00000456961.1:n.*98-23_*98-21del
NM_000303.2:c.640-23_640-21del	NP_000294.1:n.640-23_640-21del
XM_005255374.3:c.391-23_391-21del	XP_005255431.1:n.391-23_391-21del
XM_011522538.1:c.640-7333_640-7331del	XP_011520840.1:n.640-7333_640-7331del
XM_005255374.4:c.391-23_391-21del	XP_005255431.1:n.391-23_391-21del
NM_000303.3:c.640-23_640-21del MANE Select	NP_000294.1:n.640-23_640-21del