Canonical Allele Identifier: CA2206132313

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8804777_8804778delinsAT , CM000678.2:g.8804777_8804778delinsAT	GRCh38
NC_000016.9:g.8898634_8898635delinsAT , CM000678.1:g.8898634_8898635delinsAT	GRCh37
NC_000016.8:g.8806135_8806136delinsAT	NCBI36
NG_009209.1:g.11965_11966delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000682008.1:c.189_190delinsAT	ENSP00000507849.1:p.Lys63=
ENST00000682393.1:c.178+2867_178+2868delinsAT	ENSP00000506774.1:n.178+2867_178+2868deli...
ENST00000683094.1:c.179-1539_179-1538delinsAT	ENSP00000508230.1:n.179-1539_179-1538deli...
ENST00000683274.1:c.189_190delinsAT	ENSP00000507262.1:p.Lys63=
ENST00000683435.1:c.*185_*186delinsAT	ENSP00000508092.1:n.*185_*186delinsAT
ENST00000268261.9:c.189_190delinsAT MANE Select	ENSP00000268261.4:p.Lys63=
ENST00000268261.8:c.189_190delinsAT	ENSP00000268261.4:p.Lys63=
ENST00000562318.5:c.179-1539_179-1538delinsAT	ENSP00000454395.1:n.179-1539_179-1538deli...
ENST00000562448.1:n.220-1539_220-1538delinsAT
ENST00000564030.5:n.251_252delinsAT
ENST00000564069.1:c.160_161delinsAT
ENST00000565221.5:c.178+2867_178+2868delinsAT	ENSP00000457932.1:n.178+2867_178+2868deli...
ENST00000565896.5:c.*145+2388_*145+2389delinsAT	ENSP00000456024.1:n.*145+2388_*145+2389de...
ENST00000566540.5:c.179-1539_179-1538delinsAT	ENSP00000454284.1:n.179-1539_179-1538deli...
ENST00000566604.5:c.189_190delinsAT	ENSP00000456774.1:p.Lys63=
ENST00000566983.5:c.108_109delinsAT	ENSP00000457956.1:p.Lys36=
ENST00000568602.5:c.*42_*43delinsAT	ENSP00000455066.1:n.*42_*43delinsAT
ENST00000569958.5:c.178+2867_178+2868delinsAT	ENSP00000456302.1:n.178+2867_178+2868deli...
ENST00000570076.5:c.178+2867_178+2868delinsAT	ENSP00000456961.1:n.178+2867_178+2868deli...
ENST00000570134.5:c.179-1539_179-1538delinsAT	ENSP00000456275.1:n.179-1539_179-1538deli...
NM_000303.2:c.189_190delinsAT	NP_000294.1:p.Lys63=
XM_005255372.3:c.189_190delinsAT	XP_005255429.1:p.Lys63=
XM_005255373.3:c.7-1539_7-1538delinsAT	XP_005255430.1:n.7-1539_7-1538delinsAT
XM_005255374.3:c.7-1539_7-1538delinsAT	XP_005255431.1:n.7-1539_7-1538delinsAT
XM_011522538.1:c.189_190delinsAT	XP_011520840.1:p.Lys63=
XM_011522539.1:c.-29+2867_-29+2868delinsAT	XP_011520841.1:n.-29+2867_-29+2868delinsA...
XM_005255374.4:c.7-1539_7-1538delinsAT	XP_005255431.1:n.7-1539_7-1538delinsAT
NM_000303.3:c.189_190delinsAT MANE Select	NP_000294.1:p.Lys63=