Canonical Allele Identifier: CA2206132460

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8805045_8805047delinsTTC , CM000678.2:g.8805045_8805047delinsTTC	GRCh38
NC_000016.9:g.8898902_8898904delinsTTC , CM000678.1:g.8898902_8898904delinsTTC	GRCh37
NC_000016.8:g.8806403_8806405delinsTTC	NCBI36
NG_009209.1:g.12233_12235delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.255+202_255+204delinsTTC	ENSP00000507849.1:n.255+202_255+204delinsTTC
ENST00000682393.1:c.178+3135_178+3137delinsTTC	ENSP00000506774.1:n.178+3135_178+3137delinsTTC
ENST00000683094.1:c.179-1271_179-1269delinsTTC	ENSP00000508230.1:n.179-1271_179-1269delinsTTC
ENST00000683274.1:c.255+202_255+204delinsTTC	ENSP00000507262.1:n.255+202_255+204delinsTTC
ENST00000683435.1:c.*251+202_*251+204delinsTTC	ENSP00000508092.1:n.*251+202_*251+204delinsTTC
ENST00000268261.9:c.255+202_255+204delinsTTC MANE Select	ENSP00000268261.4:n.255+202_255+204delinsTTC
ENST00000268261.8:c.255+202_255+204delinsTTC	ENSP00000268261.4:n.255+202_255+204delinsTTC
ENST00000562318.5:c.179-1271_179-1269delinsTTC	ENSP00000454395.1:n.179-1271_179-1269delinsTTC
ENST00000562448.1:n.220-1271_220-1269delinsTTC
ENST00000564030.5:n.317+202_317+204delinsTTC
ENST00000564069.1:c.226+202_226+204delinsTTC
ENST00000565221.5:c.178+3135_178+3137delinsTTC	ENSP00000457932.1:n.178+3135_178+3137delinsTTC
ENST00000565896.5:c.*145+2656_*145+2658delinsTTC	ENSP00000456024.1:n.*145+2656_*145+2658delinsTTC
ENST00000566540.5:c.179-1271_179-1269delinsTTC	ENSP00000454284.1:n.179-1271_179-1269delinsTTC
ENST00000566604.5:c.255+202_255+204delinsTTC	ENSP00000456774.1:n.255+202_255+204delinsTTC
ENST00000566983.5:c.174+202_174+204delinsTTC	ENSP00000457956.1:n.174+202_174+204delinsTTC
ENST00000568602.5:c.*108+202_*108+204delinsTTC	ENSP00000455066.1:n.*108+202_*108+204delinsTTC
ENST00000569958.5:c.178+3135_178+3137delinsTTC	ENSP00000456302.1:n.178+3135_178+3137delinsTTC
ENST00000570076.5:c.178+3135_178+3137delinsTTC	ENSP00000456961.1:n.178+3135_178+3137delinsTTC
ENST00000570134.5:c.179-1271_179-1269delinsTTC	ENSP00000456275.1:n.179-1271_179-1269delinsTTC
NM_000303.2:c.255+202_255+204delinsTTC	NP_000294.1:n.255+202_255+204delinsTTC
XM_005255372.3:c.255+202_255+204delinsTTC	XP_005255429.1:n.255+202_255+204delinsTTC
XM_005255373.3:c.7-1271_7-1269delinsTTC	XP_005255430.1:n.7-1271_7-1269delinsTTC
XM_005255374.3:c.7-1271_7-1269delinsTTC	XP_005255431.1:n.7-1271_7-1269delinsTTC
XM_011522538.1:c.255+202_255+204delinsTTC	XP_011520840.1:n.255+202_255+204delinsTTC
XM_011522539.1:c.-29+3135_-29+3137delinsTTC	XP_011520841.1:n.-29+3135_-29+3137delinsTTC
XM_005255374.4:c.7-1271_7-1269delinsTTC	XP_005255431.1:n.7-1271_7-1269delinsTTC
NM_000303.3:c.255+202_255+204delinsTTC MANE Select	NP_000294.1:n.255+202_255+204delinsTTC