Canonical Allele Identifier: CA2206158083

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847776_8847782delinsTGACAGC , CM000678.2:g.8847776_8847782delinsTGACAGC	GRCh38
NC_000016.9:g.8941633_8941639delinsTGACAGC , CM000678.1:g.8941633_8941639delinsTGACAGC	GRCh37
NC_000016.8:g.8849134_8849140delinsTGACAGC	NCBI36
NG_009209.1:g.54964_54970delinsTGACAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3860_3866delinsTGACAGC
ENST00000682393.1:c.*258-1593_*258-1587delinsTGACAGC	ENSP00000506774.1:n.*258-1593_*258-1587delinsTGACAGC
ENST00000683094.1:c.*262-1593_*262-1587delinsTGACAGC	ENSP00000508230.1:n.*262-1593_*262-1587delinsTGACAGC
ENST00000683274.1:c.*180-1593_*180-1587delinsTGACAGC	ENSP00000507262.1:n.*180-1593_*180-1587delinsTGACAGC
ENST00000683435.1:c.*588_*594delinsTGACAGC	ENSP00000508092.1:n.*588_*594delinsTGACAGC
ENST00000268261.9:c.692_698delinsTGACAGC MANE Select	ENSP00000268261.4:p.Val231=
ENST00000268261.8:c.692_698delinsTGACAGC	ENSP00000268261.4:p.Val231=
ENST00000562025.1:n.226_232delinsTGACAGC
ENST00000562318.5:c.*414_*420delinsTGACAGC	ENSP00000454395.1:n.*414_*420delinsTGACAGC
ENST00000565221.5:c.*310_*316delinsTGACAGC	ENSP00000457932.1:n.*310_*316delinsTGACAGC
ENST00000566540.5:c.*314_*320delinsTGACAGC	ENSP00000454284.1:n.*314_*320delinsTGACAGC
ENST00000566604.5:c.*232_*238delinsTGACAGC	ENSP00000456774.1:n.*232_*238delinsTGACAGC
ENST00000566983.5:c.611_617delinsTGACAGC	ENSP00000457956.1:p.Val204=
ENST00000567697.1:n.3860_3866delinsTGACAGC
ENST00000569958.5:c.419_425delinsTGACAGC	ENSP00000456302.1:p.Val140=
ENST00000570076.5:c.*150_*156delinsTGACAGC	ENSP00000456961.1:n.*150_*156delinsTGACAGC
NM_000303.2:c.692_698delinsTGACAGC	NP_000294.1:p.Val231=
XM_005255374.3:c.443_449delinsTGACAGC	XP_005255431.1:p.Val148=
XM_011522538.1:c.640-7258_640-7252delinsTGACAGC	XP_011520840.1:n.640-7258_640-7252delinsTGACAGC
XM_005255374.4:c.443_449delinsTGACAGC	XP_005255431.1:p.Val148=
NM_000303.3:c.692_698delinsTGACAGC MANE Select	NP_000294.1:p.Val231=