Canonical Allele Identifier: CA2580092099

Gene: PMM2

Linked Data

• ClinVar Variation Id: 1726202
• ClinVar RCV Id: RCV002307173

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806355_8806356del , CM000678.2:g.8806355_8806356del	GRCh38
NC_000016.9:g.8900212_8900213del , CM000678.1:g.8900212_8900213del	GRCh37
NC_000016.8:g.8807713_8807714del	NCBI36
NG_009209.1:g.13543_13544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.295_296del	ENSP00000507849.1:p.Leu99AsnfsTer12
ENST00000682393.1:c.178+4445_178+4446del	ENSP00000506774.1:n.178+4445_178+4446del
ENST00000683094.1:c.*17_*18del	ENSP00000508230.1:n.*17_*18del
ENST00000683274.1:c.295_296del	ENSP00000507262.1:p.Leu99AsnfsTer12
ENST00000683435.1:c.*291_*292del	ENSP00000508092.1:n.*291_*292del
ENST00000268261.9:c.295_296del MANE Select	ENSP00000268261.4:p.Leu99AsnfsTer12
ENST00000268261.8:c.295_296del	ENSP00000268261.4:p.Leu99AsnfsTer12
ENST00000562318.5:c.*17_*18del	ENSP00000454395.1:n.*17_*18del
ENST00000562448.1:n.259_260del
ENST00000564030.5:n.357_358del
ENST00000564069.1:c.266_267del
ENST00000565221.5:c.178+4445_178+4446del	ENSP00000457932.1:n.178+4445_178+4446del
ENST00000565896.5:c.*145+3966_*145+3967del	ENSP00000456024.1:n.*145+3966_*145+3967del
ENST00000566540.5:c.*17_*18del	ENSP00000454284.1:n.*17_*18del
ENST00000566604.5:c.295_296del	ENSP00000456774.1:p.Leu99AsnfsTer12
ENST00000566983.5:c.214_215del	ENSP00000457956.1:p.Leu72AsnfsTer12
ENST00000568602.5:c.*148_*149del	ENSP00000455066.1:n.*148_*149del
ENST00000569958.5:c.178+4445_178+4446del	ENSP00000456302.1:n.178+4445_178+4446del
ENST00000570076.5:c.178+4445_178+4446del	ENSP00000456961.1:n.178+4445_178+4446del
ENST00000570134.5:c.*17_*18del	ENSP00000456275.1:n.*17_*18del
NM_000303.2:c.295_296del	NP_000294.1:p.Leu99AsnfsTer12
XM_005255372.3:c.295_296del	XP_005255429.1:p.Leu99AsnfsTer12
XM_005255373.3:c.46_47del	XP_005255430.1:p.Leu16AsnfsTer12
XM_005255374.3:c.46_47del	XP_005255431.1:p.Leu16AsnfsTer12
XM_011522538.1:c.295_296del	XP_011520840.1:p.Leu99AsnfsTer12
XM_011522539.1:c.-29+4445_-29+4446del	XP_011520841.1:n.-29+4445_-29+4446del
XM_005255374.4:c.46_47del	XP_005255431.1:p.Leu16AsnfsTer12
NM_000303.3:c.295_296del MANE Select	NP_000294.1:p.Leu99AsnfsTer12