Canonical Allele Identifier: CA2206158086

Gene: PMM2

Linked Data

• dbSNP Id: rs2060937529

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847778_8847783del , CM000678.2:g.8847778_8847783del	GRCh38
NC_000016.9:g.8941635_8941640del , CM000678.1:g.8941635_8941640del	GRCh37
NC_000016.8:g.8849136_8849141del	NCBI36
NG_009209.1:g.54966_54971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3862_3867del
ENST00000682393.1:c.*258-1591_*258-1586del	ENSP00000506774.1:n.*258-1591_*258-1586del
ENST00000683094.1:c.*262-1591_*262-1586del	ENSP00000508230.1:n.*262-1591_*262-1586del
ENST00000683274.1:c.*180-1591_*180-1586del	ENSP00000507262.1:n.*180-1591_*180-1586del
ENST00000683435.1:c.*590_*595del	ENSP00000508092.1:n.*590_*595del
ENST00000268261.9:c.694_699del MANE Select	ENSP00000268261.4:p.Thr232_Ala233del
ENST00000268261.8:c.694_699del	ENSP00000268261.4:p.Thr232_Ala233del
ENST00000562025.1:n.228_233del
ENST00000562318.5:c.*416_*421del	ENSP00000454395.1:n.*416_*421del
ENST00000565221.5:c.*312_*317del	ENSP00000457932.1:n.*312_*317del
ENST00000566540.5:c.*316_*321del	ENSP00000454284.1:n.*316_*321del
ENST00000566604.5:c.*234_*239del	ENSP00000456774.1:n.*234_*239del
ENST00000566983.5:c.613_618del	ENSP00000457956.1:p.Thr205_Ala206del
ENST00000567697.1:n.3862_3867del
ENST00000569958.5:c.421_426del	ENSP00000456302.1:p.Thr141_Ala142del
ENST00000570076.5:c.*152_*157del	ENSP00000456961.1:n.*152_*157del
NM_000303.2:c.694_699del	NP_000294.1:p.Thr232_Ala233del
XM_005255374.3:c.445_450del	XP_005255431.1:p.Thr149_Ala150del
XM_011522538.1:c.640-7256_640-7251del	XP_011520840.1:n.640-7256_640-7251del
XM_005255374.4:c.445_450del	XP_005255431.1:p.Thr149_Ala150del
NM_000303.3:c.694_699del MANE Select	NP_000294.1:p.Thr232_Ala233del