Canonical Allele Identifier: CA277488515

Gene: PMM2

Linked Data

• dbSNP Id: rs755623953
• gnomAD v3: 16-8805000-AT-A
• gnomAD v4: 16-8805000-AT-A
• MyVariant Identifiers: chr16:g.8898858del (hg19) ; chr16:g.8805001del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8805002del , CM000678.2:g.8805002del	GRCh38
NC_000016.9:g.8898859del , CM000678.1:g.8898859del	GRCh37
NC_000016.8:g.8806360del	NCBI36
NG_009209.1:g.12190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.255+159del	ENSP00000507849.1:n.255+159del
ENST00000682393.1:c.178+3092del	ENSP00000506774.1:n.178+3092del
ENST00000683094.1:c.179-1314del	ENSP00000508230.1:n.179-1314del
ENST00000683274.1:c.255+159del	ENSP00000507262.1:n.255+159del
ENST00000683435.1:c.*251+159del	ENSP00000508092.1:n.*251+159del
ENST00000268261.9:c.255+159del MANE Select	ENSP00000268261.4:n.255+159del
ENST00000268261.8:c.255+159del	ENSP00000268261.4:n.255+159del
ENST00000562318.5:c.179-1314del	ENSP00000454395.1:n.179-1314del
ENST00000562448.1:n.220-1314del
ENST00000564030.5:n.317+159del
ENST00000564069.1:c.226+159del
ENST00000565221.5:c.178+3092del	ENSP00000457932.1:n.178+3092del
ENST00000565896.5:c.*145+2613del	ENSP00000456024.1:n.*145+2613del
ENST00000566540.5:c.179-1314del	ENSP00000454284.1:n.179-1314del
ENST00000566604.5:c.255+159del	ENSP00000456774.1:n.255+159del
ENST00000566983.5:c.174+159del	ENSP00000457956.1:n.174+159del
ENST00000568602.5:c.*108+159del	ENSP00000455066.1:n.*108+159del
ENST00000569958.5:c.178+3092del	ENSP00000456302.1:n.178+3092del
ENST00000570076.5:c.178+3092del	ENSP00000456961.1:n.178+3092del
ENST00000570134.5:c.179-1314del	ENSP00000456275.1:n.179-1314del
NM_000303.2:c.255+159del	NP_000294.1:n.255+159del
XM_005255372.3:c.255+159del	XP_005255429.1:n.255+159del
XM_005255373.3:c.7-1314del	XP_005255430.1:n.7-1314del
XM_005255374.3:c.7-1314del	XP_005255431.1:n.7-1314del
XM_011522538.1:c.255+159del	XP_011520840.1:n.255+159del
XM_011522539.1:c.-29+3092del	XP_011520841.1:n.-29+3092del
XM_005255374.4:c.7-1314del	XP_005255431.1:n.7-1314del
NM_000303.3:c.255+159del MANE Select	NP_000294.1:n.255+159del