Canonical Allele Identifier: CA2206133232

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806409_8806410delinsTG , CM000678.2:g.8806409_8806410delinsTG	GRCh38
NC_000016.9:g.8900266_8900267delinsTG , CM000678.1:g.8900266_8900267delinsTG	GRCh37
NC_000016.8:g.8807767_8807768delinsTG	NCBI36
NG_009209.1:g.13597_13598delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682008.1:c.347+2_347+3delinsTG	ENSP00000507849.1:n.347+2_347+3delinsTG
ENST00000682393.1:c.178+4499_178+4500delinsTG	ENSP00000506774.1:n.178+4499_178+4500deli...
ENST00000683094.1:c.*69+2_*69+3delinsTG	ENSP00000508230.1:n.*69+2_*69+3delinsTG
ENST00000683274.1:c.347+2_347+3delinsTG	ENSP00000507262.1:n.347+2_347+3delinsTG
ENST00000683435.1:c.*343+2_*343+3delinsTG	ENSP00000508092.1:n.*343+2_*343+3delinsTG...
ENST00000268261.9:c.347+2_347+3delinsTG MANE Select	ENSP00000268261.4:n.347+2_347+3delinsTG
ENST00000268261.8:c.347+2_347+3delinsTG	ENSP00000268261.4:n.347+2_347+3delinsTG
ENST00000562318.5:c.*69+2_*69+3delinsTG	ENSP00000454395.1:n.*69+2_*69+3delinsTG
ENST00000562448.1:n.313_314delinsTG
ENST00000564030.5:n.411_412delinsTG
ENST00000564069.1:c.318+2_318+3delinsTG
ENST00000565221.5:c.178+4499_178+4500delinsTG	ENSP00000457932.1:n.178+4499_178+4500deli...
ENST00000565896.5:c.*145+4020_*145+4021delinsTG	ENSP00000456024.1:n.*145+4020_*145+4021de...
ENST00000566540.5:c.*69+2_*69+3delinsTG	ENSP00000454284.1:n.*69+2_*69+3delinsTG
ENST00000566604.5:c.347+2_347+3delinsTG	ENSP00000456774.1:n.347+2_347+3delinsTG
ENST00000566983.5:c.266+2_266+3delinsTG	ENSP00000457956.1:n.266+2_266+3delinsTG
ENST00000568602.5:c.*200+2_*200+3delinsTG	ENSP00000455066.1:n.*200+2_*200+3delinsTG...
ENST00000569958.5:c.178+4499_178+4500delinsTG	ENSP00000456302.1:n.178+4499_178+4500deli...
ENST00000570076.5:c.178+4499_178+4500delinsTG	ENSP00000456961.1:n.178+4499_178+4500deli...
ENST00000570134.5:c.*69+2_*69+3delinsTG	ENSP00000456275.1:n.*69+2_*69+3delinsTG
NM_000303.2:c.347+2_347+3delinsTG	NP_000294.1:n.347+2_347+3delinsTG
XM_005255372.3:c.347+2_347+3delinsTG	XP_005255429.1:n.347+2_347+3delinsTG
XM_005255373.3:c.98+2_98+3delinsTG	XP_005255430.1:n.98+2_98+3delinsTG
XM_005255374.3:c.98+2_98+3delinsTG	XP_005255431.1:n.98+2_98+3delinsTG
XM_011522538.1:c.347+2_347+3delinsTG	XP_011520840.1:n.347+2_347+3delinsTG
XM_011522539.1:c.-29+4499_-29+4500delinsTG	XP_011520841.1:n.-29+4499_-29+4500delinsT...
XM_005255374.4:c.98+2_98+3delinsTG	XP_005255431.1:n.98+2_98+3delinsTG
NM_000303.3:c.347+2_347+3delinsTG MANE Select	NP_000294.1:n.347+2_347+3delinsTG