Canonical Allele Identifier: CA2206135586

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8810908_8810910delinsCTT , CM000678.2:g.8810908_8810910delinsCTT	GRCh38
NC_000016.9:g.8904765_8904767delinsCTT , CM000678.1:g.8904765_8904767delinsCTT	GRCh37
NC_000016.8:g.8812266_8812268delinsCTT	NCBI36
NG_009209.1:g.18096_18098delinsCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000567697.2:n.3345_3347delinsCTT
ENST00000682008.1:c.348-171_348-169delinsCTT	ENSP00000507849.1:n.348-171_348-169delinsCTT
ENST00000682393.1:c.179-171_179-169delinsCTT	ENSP00000506774.1:n.179-171_179-169delinsCTT
ENST00000683094.1:c.*70-730_*70-728delinsCTT	ENSP00000508230.1:n.*70-730_*70-728delinsCTT
ENST00000683274.1:c.348-730_348-728delinsCTT	ENSP00000507262.1:n.348-730_348-728delinsCTT
ENST00000683435.1:c.*344-730_*344-728delinsCTT	ENSP00000508092.1:n.*344-730_*344-728delinsCTT
ENST00000268261.9:c.348-171_348-169delinsCTT MANE Select	ENSP00000268261.4:n.348-171_348-169delinsCTT
ENST00000268261.8:c.348-171_348-169delinsCTT	ENSP00000268261.4:n.348-171_348-169delinsCTT
ENST00000562318.5:c.*70-171_*70-169delinsCTT	ENSP00000454395.1:n.*70-171_*70-169delinsCTT
ENST00000564069.1:c.319-171_319-169delinsCTT
ENST00000565221.5:c.179-171_179-169delinsCTT	ENSP00000457932.1:n.179-171_179-169delinsCTT
ENST00000565896.5:c.*146-171_*146-169delinsCTT	ENSP00000456024.1:n.*146-171_*146-169delinsCTT
ENST00000566540.5:c.*70-730_*70-728delinsCTT	ENSP00000454284.1:n.*70-730_*70-728delinsCTT
ENST00000566604.5:c.348-730_348-728delinsCTT	ENSP00000456774.1:n.348-730_348-728delinsCTT
ENST00000566983.5:c.267-171_267-169delinsCTT	ENSP00000457956.1:n.267-171_267-169delinsCTT
ENST00000567697.1:n.3345_3347delinsCTT
ENST00000568602.5:c.*201-171_*201-169delinsCTT	ENSP00000455066.1:n.*201-171_*201-169delinsCTT
ENST00000569958.5:c.179-734_179-732delinsCTT	ENSP00000456302.1:n.179-734_179-732delinsCTT
ENST00000570076.5:c.179-730_179-728delinsCTT	ENSP00000456961.1:n.179-730_179-728delinsCTT
ENST00000570134.5:c.*70-730_*70-728delinsCTT	ENSP00000456275.1:n.*70-730_*70-728delinsCTT
NM_000303.2:c.348-171_348-169delinsCTT	NP_000294.1:n.348-171_348-169delinsCTT
XM_005255372.3:c.348-171_348-169delinsCTT	XP_005255429.1:n.348-171_348-169delinsCTT
XM_005255373.3:c.99-171_99-169delinsCTT	XP_005255430.1:n.99-171_99-169delinsCTT
XM_005255374.3:c.99-171_99-169delinsCTT	XP_005255431.1:n.99-171_99-169delinsCTT
XM_011522538.1:c.348-171_348-169delinsCTT	XP_011520840.1:n.348-171_348-169delinsCTT
XM_011522539.1:c.-28-171_-28-169delinsCTT	XP_011520841.1:n.-28-171_-28-169delinsCTT
XM_005255374.4:c.99-171_99-169delinsCTT	XP_005255431.1:n.99-171_99-169delinsCTT
NM_000303.3:c.348-171_348-169delinsCTT MANE Select	NP_000294.1:n.348-171_348-169delinsCTT