Canonical Allele Identifier: CA493511806

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8900210_8900211insTTT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806354_8806356dup , CM000678.2:g.8806354_8806356dup	GRCh38
NC_000016.9:g.8900211_8900213dup , CM000678.1:g.8900211_8900213dup	GRCh37
NC_000016.8:g.8807712_8807714dup	NCBI36
NG_009209.1:g.13542_13544dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.294_296dup	ENSP00000507849.1:p.Asp98_Leu99insPhe
ENST00000682393.1:c.178+4444_178+4446dup	ENSP00000506774.1:n.178+4444_178+4446dup
ENST00000683094.1:c.*16_*18dup	ENSP00000508230.1:n.*16_*18dup
ENST00000683274.1:c.294_296dup	ENSP00000507262.1:p.Asp98_Leu99insPhe
ENST00000683435.1:c.*290_*292dup	ENSP00000508092.1:n.*290_*292dup
ENST00000268261.9:c.294_296dup MANE Select	ENSP00000268261.4:p.Asp98_Leu99insPhe
ENST00000268261.8:c.294_296dup	ENSP00000268261.4:p.Asp98_Leu99insPhe
ENST00000562318.5:c.*16_*18dup	ENSP00000454395.1:n.*16_*18dup
ENST00000562448.1:n.258_260dup
ENST00000564030.5:n.356_358dup
ENST00000564069.1:c.265_267dup
ENST00000565221.5:c.178+4444_178+4446dup	ENSP00000457932.1:n.178+4444_178+4446dup
ENST00000565896.5:c.*145+3965_*145+3967dup	ENSP00000456024.1:n.*145+3965_*145+3967dup
ENST00000566540.5:c.*16_*18dup	ENSP00000454284.1:n.*16_*18dup
ENST00000566604.5:c.294_296dup	ENSP00000456774.1:p.Asp98_Leu99insPhe
ENST00000566983.5:c.213_215dup	ENSP00000457956.1:p.Asp71_Leu72insPhe
ENST00000568602.5:c.*147_*149dup	ENSP00000455066.1:n.*147_*149dup
ENST00000569958.5:c.178+4444_178+4446dup	ENSP00000456302.1:n.178+4444_178+4446dup
ENST00000570076.5:c.178+4444_178+4446dup	ENSP00000456961.1:n.178+4444_178+4446dup
ENST00000570134.5:c.*16_*18dup	ENSP00000456275.1:n.*16_*18dup
NM_000303.2:c.294_296dup	NP_000294.1:p.Asp98_Leu99insPhe
XM_005255372.3:c.294_296dup	XP_005255429.1:p.Asp98_Leu99insPhe
XM_005255373.3:c.45_47dup	XP_005255430.1:p.Asp15_Leu16insPhe
XM_005255374.3:c.45_47dup	XP_005255431.1:p.Asp15_Leu16insPhe
XM_011522538.1:c.294_296dup	XP_011520840.1:p.Asp98_Leu99insPhe
XM_011522539.1:c.-29+4444_-29+4446dup	XP_011520841.1:n.-29+4444_-29+4446dup
XM_005255374.4:c.45_47dup	XP_005255431.1:p.Asp15_Leu16insPhe
NM_000303.3:c.294_296dup MANE Select	NP_000294.1:p.Asp98_Leu99insPhe