Canonical Allele Identifier: CA2631646223

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848057-TCCCCACCCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848063_8848072del , CM000678.2:g.8848063_8848072del	GRCh38
NC_000016.9:g.8941920_8941929del , CM000678.1:g.8941920_8941929del	GRCh37
NC_000016.8:g.8849421_8849430del	NCBI36
NG_009209.1:g.55251_55260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4147_4156del
ENST00000682393.1:c.*258-1306_*258-1297del	ENSP00000506774.1:n.*258-1306_*258-1297del
ENST00000683094.1:c.*262-1306_*262-1297del	ENSP00000508230.1:n.*262-1306_*262-1297del
ENST00000683274.1:c.*180-1306_*180-1297del	ENSP00000507262.1:n.*180-1306_*180-1297del
ENST00000268261.9:c.*238_*247del MANE Select	ENSP00000268261.4:n.*238_*247del
ENST00000268261.8:c.*238_*247del	ENSP00000268261.4:n.*238_*247del
ENST00000562025.1:n.513_522del
ENST00000566540.5:c.*601_*610del	ENSP00000454284.1:n.*601_*610del
ENST00000566604.5:c.*519_*528del	ENSP00000456774.1:n.*519_*528del
ENST00000567697.1:n.4147_4156del
ENST00000570076.5:c.*437_*446del	ENSP00000456961.1:n.*437_*446del
NM_000303.2:c.*238_*247del	NP_000294.1:n.*238_*247del
XM_005255374.3:c.*238_*247del	XP_005255431.1:n.*238_*247del
XM_011522538.1:c.640-6971_640-6962del	XP_011520840.1:n.640-6971_640-6962del
XM_005255374.4:c.*238_*247del	XP_005255431.1:n.*238_*247del
NM_000303.3:c.*238_*247del MANE Select	NP_000294.1:n.*238_*247del