Canonical Allele Identifier: CA2206133131

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806218_8806219delinsAT , CM000678.2:g.8806218_8806219delinsAT	GRCh38
NC_000016.9:g.8900075_8900076delinsAT , CM000678.1:g.8900075_8900076delinsAT	GRCh37
NC_000016.8:g.8807576_8807577delinsAT	NCBI36
NG_009209.1:g.13406_13407delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000682008.1:c.256-98_256-97delinsAT	ENSP00000507849.1:n.256-98_256-97delinsAT...
ENST00000682393.1:c.178+4308_178+4309delinsAT	ENSP00000506774.1:n.178+4308_178+4309deli...
ENST00000683094.1:c.179-98_179-97delinsAT	ENSP00000508230.1:n.179-98_179-97delinsAT...
ENST00000683274.1:c.256-98_256-97delinsAT	ENSP00000507262.1:n.256-98_256-97delinsAT...
ENST00000683435.1:c.*252-98_*252-97delinsAT	ENSP00000508092.1:n.*252-98_*252-97delins...
ENST00000268261.9:c.256-98_256-97delinsAT MANE Select	ENSP00000268261.4:n.256-98_256-97delinsAT...
ENST00000268261.8:c.256-98_256-97delinsAT	ENSP00000268261.4:n.256-98_256-97delinsAT...
ENST00000562318.5:c.179-98_179-97delinsAT	ENSP00000454395.1:n.179-98_179-97delinsAT...
ENST00000562448.1:n.220-98_220-97delinsAT
ENST00000564030.5:n.318-98_318-97delinsAT
ENST00000564069.1:c.227-98_227-97delinsAT
ENST00000565221.5:c.178+4308_178+4309delinsAT	ENSP00000457932.1:n.178+4308_178+4309deli...
ENST00000565896.5:c.*145+3829_*145+3830delinsAT	ENSP00000456024.1:n.*145+3829_*145+3830de...
ENST00000566540.5:c.179-98_179-97delinsAT	ENSP00000454284.1:n.179-98_179-97delinsAT...
ENST00000566604.5:c.256-98_256-97delinsAT	ENSP00000456774.1:n.256-98_256-97delinsAT...
ENST00000566983.5:c.175-98_175-97delinsAT	ENSP00000457956.1:n.175-98_175-97delinsAT...
ENST00000568602.5:c.*109-98_*109-97delinsAT	ENSP00000455066.1:n.*109-98_*109-97delins...
ENST00000569958.5:c.178+4308_178+4309delinsAT	ENSP00000456302.1:n.178+4308_178+4309deli...
ENST00000570076.5:c.178+4308_178+4309delinsAT	ENSP00000456961.1:n.178+4308_178+4309deli...
ENST00000570134.5:c.179-98_179-97delinsAT	ENSP00000456275.1:n.179-98_179-97delinsAT...
NM_000303.2:c.256-98_256-97delinsAT	NP_000294.1:n.256-98_256-97delinsAT
XM_005255372.3:c.256-98_256-97delinsAT	XP_005255429.1:n.256-98_256-97delinsAT
XM_005255373.3:c.7-98_7-97delinsAT	XP_005255430.1:n.7-98_7-97delinsAT
XM_005255374.3:c.7-98_7-97delinsAT	XP_005255431.1:n.7-98_7-97delinsAT
XM_011522538.1:c.256-98_256-97delinsAT	XP_011520840.1:n.256-98_256-97delinsAT
XM_011522539.1:c.-29+4308_-29+4309delinsAT	XP_011520841.1:n.-29+4308_-29+4309delinsA...
XM_005255374.4:c.7-98_7-97delinsAT	XP_005255431.1:n.7-98_7-97delinsAT
NM_000303.3:c.256-98_256-97delinsAT MANE Select	NP_000294.1:n.256-98_256-97delinsAT