Canonical Allele Identifier: CA2631646124

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847794_8847799del , CM000678.2:g.8847794_8847799del	GRCh38
NC_000016.9:g.8941651_8941656del , CM000678.1:g.8941651_8941656del	GRCh37
NC_000016.8:g.8849152_8849157del	NCBI36
NG_009209.1:g.54982_54987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3878_3883del
ENST00000682393.1:c.*258-1575_*258-1570del	ENSP00000506774.1:n.*258-1575_*258-1570del
ENST00000683094.1:c.*262-1575_*262-1570del	ENSP00000508230.1:n.*262-1575_*262-1570del
ENST00000683274.1:c.*180-1575_*180-1570del	ENSP00000507262.1:n.*180-1575_*180-1570del
ENST00000683435.1:c.*606_*611del	ENSP00000508092.1:n.*606_*611del
ENST00000268261.9:c.710_715del MANE Select	ENSP00000268261.4:p.Thr237_Arg238del
ENST00000268261.8:c.710_715del	ENSP00000268261.4:p.Thr237_Arg238del
ENST00000562025.1:n.244_249del
ENST00000562318.5:c.*432_*437del	ENSP00000454395.1:n.*432_*437del
ENST00000565221.5:c.*328_*333del	ENSP00000457932.1:n.*328_*333del
ENST00000566540.5:c.*332_*337del	ENSP00000454284.1:n.*332_*337del
ENST00000566604.5:c.*250_*255del	ENSP00000456774.1:n.*250_*255del
ENST00000566983.5:c.629_634del	ENSP00000457956.1:p.Thr210_Arg211del
ENST00000567697.1:n.3878_3883del
ENST00000569958.5:c.437_442del	ENSP00000456302.1:p.Thr146_Arg147del
ENST00000570076.5:c.*168_*173del	ENSP00000456961.1:n.*168_*173del
NM_000303.2:c.710_715del	NP_000294.1:p.Thr237_Arg238del
XM_005255374.3:c.461_466del	XP_005255431.1:p.Thr154_Arg155del
XM_011522538.1:c.640-7240_640-7235del	XP_011520840.1:n.640-7240_640-7235del
XM_005255374.4:c.461_466del	XP_005255431.1:p.Thr154_Arg155del
NM_000303.3:c.710_715del MANE Select	NP_000294.1:p.Thr237_Arg238del