Canonical Allele Identifier: CA621172705

Gene: PMM2

Linked Data

• dbSNP Id: rs1555453319
• gnomAD v2: 16-8941928-CAG-C
• gnomAD v3: 16-8848071-CAG-C
• gnomAD v4: 16-8848071-CAG-C
• MyVariant Identifiers: chr16:g.8941929_8941930del (hg19) ; chr16:g.8848072_8848073del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848072_8848073del , CM000678.2:g.8848072_8848073del	GRCh38
NC_000016.9:g.8941929_8941930del , CM000678.1:g.8941929_8941930del	GRCh37
NC_000016.8:g.8849430_8849431del	NCBI36
NG_009209.1:g.55260_55261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4156_4157del
ENST00000682393.1:c.*258-1297_*258-1296del	ENSP00000506774.1:n.*258-1297_*258-1296del
ENST00000683094.1:c.*262-1297_*262-1296del	ENSP00000508230.1:n.*262-1297_*262-1296del
ENST00000683274.1:c.*180-1297_*180-1296del	ENSP00000507262.1:n.*180-1297_*180-1296del
ENST00000268261.9:c.*247_*248del MANE Select	ENSP00000268261.4:n.*247_*248del
ENST00000268261.8:c.*247_*248del	ENSP00000268261.4:n.*247_*248del
ENST00000562025.1:n.522_523del
ENST00000566540.5:c.*610_*611del	ENSP00000454284.1:n.*610_*611del
ENST00000566604.5:c.*528_*529del	ENSP00000456774.1:n.*528_*529del
ENST00000567697.1:n.4156_4157del
ENST00000570076.5:c.*446_*447del	ENSP00000456961.1:n.*446_*447del
NM_000303.2:c.*247_*248del	NP_000294.1:n.*247_*248del
XM_005255374.3:c.*247_*248del	XP_005255431.1:n.*247_*248del
XM_011522538.1:c.640-6962_640-6961del	XP_011520840.1:n.640-6962_640-6961del
XM_005255374.4:c.*247_*248del	XP_005255431.1:n.*247_*248del
NM_000303.3:c.*247_*248del MANE Select	NP_000294.1:n.*247_*248del