Canonical Allele Identifier: CA725527343

Gene: PMM2

Linked Data

• dbSNP Id: rs1267938280
• MyVariant Identifiers: chr16:g.8900015_8900019del (hg19) ; chr16:g.8806158_8806162del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806161_8806165del , CM000678.2:g.8806161_8806165del	GRCh38
NC_000016.9:g.8900018_8900022del , CM000678.1:g.8900018_8900022del	GRCh37
NC_000016.8:g.8807519_8807523del	NCBI36
NG_009209.1:g.13349_13353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.256-155_256-151del	ENSP00000507849.1:n.256-155_256-151del
ENST00000682393.1:c.178+4251_178+4255del	ENSP00000506774.1:n.178+4251_178+4255del
ENST00000683094.1:c.179-155_179-151del	ENSP00000508230.1:n.179-155_179-151del
ENST00000683274.1:c.256-155_256-151del	ENSP00000507262.1:n.256-155_256-151del
ENST00000683435.1:c.*252-155_*252-151del	ENSP00000508092.1:n.*252-155_*252-151del
ENST00000268261.9:c.256-155_256-151del MANE Select	ENSP00000268261.4:n.256-155_256-151del
ENST00000268261.8:c.256-155_256-151del	ENSP00000268261.4:n.256-155_256-151del
ENST00000562318.5:c.179-155_179-151del	ENSP00000454395.1:n.179-155_179-151del
ENST00000562448.1:n.220-155_220-151del
ENST00000564030.5:n.318-155_318-151del
ENST00000564069.1:c.227-155_227-151del
ENST00000565221.5:c.178+4251_178+4255del	ENSP00000457932.1:n.178+4251_178+4255del
ENST00000565896.5:c.*145+3772_*145+3776del	ENSP00000456024.1:n.*145+3772_*145+3776del
ENST00000566540.5:c.179-155_179-151del	ENSP00000454284.1:n.179-155_179-151del
ENST00000566604.5:c.256-155_256-151del	ENSP00000456774.1:n.256-155_256-151del
ENST00000566983.5:c.175-155_175-151del	ENSP00000457956.1:n.175-155_175-151del
ENST00000568602.5:c.*109-155_*109-151del	ENSP00000455066.1:n.*109-155_*109-151del
ENST00000569958.5:c.178+4251_178+4255del	ENSP00000456302.1:n.178+4251_178+4255del
ENST00000570076.5:c.178+4251_178+4255del	ENSP00000456961.1:n.178+4251_178+4255del
ENST00000570134.5:c.179-155_179-151del	ENSP00000456275.1:n.179-155_179-151del
NM_000303.2:c.256-155_256-151del	NP_000294.1:n.256-155_256-151del
XM_005255372.3:c.256-155_256-151del	XP_005255429.1:n.256-155_256-151del
XM_005255373.3:c.7-155_7-151del	XP_005255430.1:n.7-155_7-151del
XM_005255374.3:c.7-155_7-151del	XP_005255431.1:n.7-155_7-151del
XM_011522538.1:c.256-155_256-151del	XP_011520840.1:n.256-155_256-151del
XM_011522539.1:c.-29+4251_-29+4255del	XP_011520841.1:n.-29+4251_-29+4255del
XM_005255374.4:c.7-155_7-151del	XP_005255431.1:n.7-155_7-151del
NM_000303.3:c.256-155_256-151del MANE Select	NP_000294.1:n.256-155_256-151del