Canonical Allele Identifier: CA2533198626

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8804840_8804841insTCT , CM000678.2:g.8804840_8804841insTCT	GRCh38
NC_000016.9:g.8898697_8898698insTCT , CM000678.1:g.8898697_8898698insTCT	GRCh37
NC_000016.8:g.8806198_8806199insTCT	NCBI36
NG_009209.1:g.12028_12029insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.252_253insTCT	ENSP00000507849.1:p.Arg84_Gln85insSer
ENST00000682393.1:c.178+2930_178+2931insTCT	ENSP00000506774.1:n.178+2930_178+2931insTCT
ENST00000683094.1:c.179-1476_179-1475insTCT	ENSP00000508230.1:n.179-1476_179-1475insTCT
ENST00000683274.1:c.252_253insTCT	ENSP00000507262.1:p.Arg84_Gln85insSer
ENST00000683435.1:c.*248_*249insTCT	ENSP00000508092.1:n.*248_*249insTCT
ENST00000268261.9:c.252_253insTCT MANE Select	ENSP00000268261.4:p.Arg84_Gln85insSer
ENST00000268261.8:c.252_253insTCT	ENSP00000268261.4:p.Arg84_Gln85insSer
ENST00000562318.5:c.179-1476_179-1475insTCT	ENSP00000454395.1:n.179-1476_179-1475insTCT
ENST00000562448.1:n.220-1476_220-1475insTCT
ENST00000564030.5:n.314_315insTCT
ENST00000564069.1:c.223_224insTCT
ENST00000565221.5:c.178+2930_178+2931insTCT	ENSP00000457932.1:n.178+2930_178+2931insTCT
ENST00000565896.5:c.*145+2451_*145+2452insTCT	ENSP00000456024.1:n.*145+2451_*145+2452insTCT
ENST00000566540.5:c.179-1476_179-1475insTCT	ENSP00000454284.1:n.179-1476_179-1475insTCT
ENST00000566604.5:c.252_253insTCT	ENSP00000456774.1:p.Arg84_Gln85insSer
ENST00000566983.5:c.171_172insTCT	ENSP00000457956.1:p.Arg57_Gln58insSer
ENST00000568602.5:c.*105_*106insTCT	ENSP00000455066.1:n.*105_*106insTCT
ENST00000569958.5:c.178+2930_178+2931insTCT	ENSP00000456302.1:n.178+2930_178+2931insTCT
ENST00000570076.5:c.178+2930_178+2931insTCT	ENSP00000456961.1:n.178+2930_178+2931insTCT
ENST00000570134.5:c.179-1476_179-1475insTCT	ENSP00000456275.1:n.179-1476_179-1475insTCT
NM_000303.2:c.252_253insTCT	NP_000294.1:p.Arg84_Gln85insSer
XM_005255372.3:c.252_253insTCT	XP_005255429.1:p.Arg84_Gln85insSer
XM_005255373.3:c.7-1476_7-1475insTCT	XP_005255430.1:n.7-1476_7-1475insTCT
XM_005255374.3:c.7-1476_7-1475insTCT	XP_005255431.1:n.7-1476_7-1475insTCT
XM_011522538.1:c.252_253insTCT	XP_011520840.1:p.Arg84_Gln85insSer
XM_011522539.1:c.-29+2930_-29+2931insTCT	XP_011520841.1:n.-29+2930_-29+2931insTCT
XM_005255374.4:c.7-1476_7-1475insTCT	XP_005255431.1:n.7-1476_7-1475insTCT
NM_000303.3:c.252_253insTCT MANE Select	NP_000294.1:p.Arg84_Gln85insSer