Canonical Allele Identifier: CA2631646161

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848004-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848007_8848008del , CM000678.2:g.8848007_8848008del	GRCh38
NC_000016.9:g.8941864_8941865del , CM000678.1:g.8941864_8941865del	GRCh37
NC_000016.8:g.8849365_8849366del	NCBI36
NG_009209.1:g.55195_55196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4091_4092del
ENST00000682393.1:c.*258-1362_*258-1361del	ENSP00000506774.1:n.*258-1362_*258-1361del
ENST00000683094.1:c.*262-1362_*262-1361del	ENSP00000508230.1:n.*262-1362_*262-1361del
ENST00000683274.1:c.*180-1362_*180-1361del	ENSP00000507262.1:n.*180-1362_*180-1361del
ENST00000268261.9:c.*182_*183del MANE Select	ENSP00000268261.4:n.*182_*183del
ENST00000268261.8:c.*182_*183del	ENSP00000268261.4:n.*182_*183del
ENST00000562025.1:n.457_458del
ENST00000562318.5:c.*645_*646del	ENSP00000454395.1:n.*645_*646del
ENST00000565221.5:c.*541_*542del	ENSP00000457932.1:n.*541_*542del
ENST00000566540.5:c.*545_*546del	ENSP00000454284.1:n.*545_*546del
ENST00000566604.5:c.*463_*464del	ENSP00000456774.1:n.*463_*464del
ENST00000567697.1:n.4091_4092del
ENST00000569958.5:c.*182_*183del	ENSP00000456302.1:n.*182_*183del
ENST00000570076.5:c.*381_*382del	ENSP00000456961.1:n.*381_*382del
NM_000303.2:c.*182_*183del	NP_000294.1:n.*182_*183del
XM_005255374.3:c.*182_*183del	XP_005255431.1:n.*182_*183del
XM_011522538.1:c.640-7027_640-7026del	XP_011520840.1:n.640-7027_640-7026del
XM_005255374.4:c.*182_*183del	XP_005255431.1:n.*182_*183del
NM_000303.3:c.*182_*183del MANE Select	NP_000294.1:n.*182_*183del