Canonical Allele Identifier: CA1139664499

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8813033_8813038delinsGTGGATTTCC , CM000678.2:g.8813033_8813038delinsGTGGATTTCC	GRCh38
NC_000016.9:g.8906890_8906895delinsGTGGATTTCC , CM000678.1:g.8906890_8906895delinsGTGGATTTCC	GRCh37
NC_000016.8:g.8814391_8814396delinsGTGGATTTCC	NCBI36
NG_009209.1:g.20221_20226delinsGTGGATTTCC

Transcript Alleles

HGVS	Amino-acid Change
NM_000303.3:c.566_571delinsGTGGATTTCC MANE Select	NP_000294.1:p.Lys189SerfsTer12
ENST00000268261.9:c.566_571delinsGTGGATTTCC MANE Select	ENSP00000268261.4:p.Lys189SerfsTer12
NM_000303.2:c.566_571delinsGTGGATTTCC	NP_000294.1:p.Lys189SerfsTer12
ENST00000268261.8:c.566_571delinsGTGGATTTCC	ENSP00000268261.4:p.Lys189SerfsTer12
ENST00000562318.5:c.*288_*293delinsGTGGATTTCC	ENSP00000454395.1:n.*288_*293delinsGTGGATTTCC
ENST00000564069.1:c.533_538delinsGTGGATTTCC
ENST00000565221.5:c.*184_*189delinsGTGGATTTCC	ENSP00000457932.1:n.*184_*189delinsGTGGATTTCC
ENST00000566540.5:c.*188_*193delinsGTGGATTTCC	ENSP00000454284.1:n.*188_*193delinsGTGGATTTCC
ENST00000566604.5:c.*106_*111delinsGTGGATTTCC	ENSP00000456774.1:n.*106_*111delinsGTGGATTTCC
ENST00000566983.5:c.485_490delinsGTGGATTTCC	ENSP00000457956.1:p.Lys162SerfsTer12
ENST00000567697.1:n.3734_3739delinsGTGGATTTCC
ENST00000567697.2:n.3734_3739delinsGTGGATTTCC
ENST00000569958.5:c.293_298delinsGTGGATTTCC	ENSP00000456302.1:p.Lys98SerfsTer12
ENST00000570076.5:c.*24_*29delinsGTGGATTTCC	ENSP00000456961.1:n.*24_*29delinsGTGGATTTCC
ENST00000570134.5:c.*188_*193delinsGTGGATTTCC	ENSP00000456275.1:n.*188_*193delinsGTGGATTTCC
ENST00000682008.1:c.566_571delinsGTGGATTTCC	ENSP00000507849.1:p.Lys189SerfsTer12
ENST00000682393.1:c.*184_*189delinsGTGGATTTCC	ENSP00000506774.1:n.*184_*189delinsGTGGATTTCC
ENST00000683094.1:c.*188_*193delinsGTGGATTTCC	ENSP00000508230.1:n.*188_*193delinsGTGGATTTCC
ENST00000683274.1:c.*106_*111delinsGTGGATTTCC	ENSP00000507262.1:n.*106_*111delinsGTGGATTTCC
ENST00000683435.1:c.*462_*467delinsGTGGATTTCC	ENSP00000508092.1:n.*462_*467delinsGTGGATTTCC
XM_005255372.3:c.566_571delinsGTGGATTTCC	XP_005255429.1:p.Lys189SerfsTer12
XM_005255373.3:c.317_322delinsGTGGATTTCC	XP_005255430.1:p.Lys106SerfsTer12
XM_005255374.3:c.317_322delinsGTGGATTTCC	XP_005255431.1:p.Lys106SerfsTer12
XM_005255374.4:c.317_322delinsGTGGATTTCC	XP_005255431.1:p.Lys106SerfsTer12
XM_011522538.1:c.566_571delinsGTGGATTTCC	XP_011520840.1:p.Lys189SerfsTer12
XM_011522539.1:c.191_196delinsGTGGATTTCC	XP_011520841.1:p.Lys64SerfsTer12