Canonical Allele Identifier: CA2206128277

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797895_8797907delinsGGCCCAGCGCTCT , CM000678.2:g.8797895_8797907delinsGGCCCAGCGCTCT	GRCh38
NC_000016.9:g.8891752_8891764delinsGGCCCAGCGCTCT , CM000678.1:g.8891752_8891764delinsGGCCCAGCGCTCT	GRCh37
NC_000016.8:g.8799253_8799265delinsGGCCCAGCGCTCT	NCBI36
NG_009209.1:g.5083_5095delinsGGCCCAGCGCTCT
NG_033146.1:g.4742_4754delinsAGAGCGCTGGGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000682008.1:c.13_25delinsGGCCCAGCGCTCT	ENSP00000507849.1:p.Gly5=
ENST00000682393.1:c.13_25delinsGGCCCAGCGCTCT	ENSP00000506774.1:p.Gly5=
ENST00000683094.1:c.13_25delinsGGCCCAGCGCTCT	ENSP00000508230.1:p.Gly5=
ENST00000683274.1:c.13_25delinsGGCCCAGCGCTCT	ENSP00000507262.1:p.Gly5=
ENST00000683435.1:c.13_25delinsGGCCCAGCGCTCT	ENSP00000508092.1:p.Gly5=
ENST00000268261.9:c.13_25delinsGGCCCAGCGCTCT MANE Select	ENSP00000268261.4:p.Gly5=
ENST00000268261.8:c.13_25delinsGGCCCAGCGCTCT	ENSP00000268261.4:p.Gly5=
ENST00000562318.5:c.13_25delinsGGCCCAGCGCTCT	ENSP00000454395.1:p.Gly5=
ENST00000562448.1:n.54_66delinsGGCCCAGCGCTCT
ENST00000564030.5:n.75_87delinsGGCCCAGCGCTCT
ENST00000565221.5:c.13_25delinsGGCCCAGCGCTCT	ENSP00000457932.1:p.Gly5=
ENST00000565896.5:c.13_25delinsGGCCCAGCGCTCT	ENSP00000456024.1:p.Gly5=
ENST00000566196.5:n.57_69delinsGGCCCAGCGCTCT
ENST00000566540.5:c.13_25delinsGGCCCAGCGCTCT	ENSP00000454284.1:p.Gly5=
ENST00000566604.5:c.13_25delinsGGCCCAGCGCTCT	ENSP00000456774.1:p.Gly5=
ENST00000566983.5:c.-15-3904_-15-3892delinsGGCCCAGCGCTCT	ENSP00000457956.1:n.-15-3904_-15-3892deli...
ENST00000568602.5:c.13_25delinsGGCCCAGCGCTCT	ENSP00000455066.1:p.Gly5=
ENST00000569958.5:c.13_25delinsGGCCCAGCGCTCT	ENSP00000456302.1:p.Gly5=
ENST00000570076.5:c.13_25delinsGGCCCAGCGCTCT	ENSP00000456961.1:p.Gly5=
ENST00000570134.5:c.13_25delinsGGCCCAGCGCTCT	ENSP00000456275.1:p.Gly5=
NM_000303.2:c.13_25delinsGGCCCAGCGCTCT	NP_000294.1:p.Gly5=
XM_005255372.3:c.13_25delinsGGCCCAGCGCTCT	XP_005255429.1:p.Gly5=
XM_005255373.3:c.-160_-148delinsGGCCCAGCGCTCT	XP_005255430.1:n.-160_-148delinsGGCCCAGCG...
XM_005255374.3:c.-160_-148delinsGGCCCAGCGCTCT	XP_005255431.1:n.-160_-148delinsGGCCCAGCG...
XM_011522538.1:c.13_25delinsGGCCCAGCGCTCT	XP_011520840.1:p.Gly5=
XM_005255374.4:c.-160_-148delinsGGCCCAGCGCTCT	XP_005255431.1:n.-160_-148delinsGGCCCAGCG...
NM_000303.3:c.13_25delinsGGCCCAGCGCTCT MANE Select	NP_000294.1:p.Gly5=