Canonical Allele Identifier: CA725561889

Gene: PMM2

Linked Data

• dbSNP Id: rs1481887316
• gnomAD v3: 16-8847694-AGCCTT-A
• gnomAD v4: 16-8847694-AGCCTT-A
• MyVariant Identifiers: chr16:g.8941552_8941556del (hg19) ; chr16:g.8847695_8847699del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847695_8847699del , CM000678.2:g.8847695_8847699del	GRCh38
NC_000016.9:g.8941552_8941556del , CM000678.1:g.8941552_8941556del	GRCh37
NC_000016.8:g.8849053_8849057del	NCBI36
NG_009209.1:g.54883_54887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3808-29_3808-25del
ENST00000682393.1:c.*258-1674_*258-1670del	ENSP00000506774.1:n.*258-1674_*258-1670del
ENST00000683094.1:c.*262-1674_*262-1670del	ENSP00000508230.1:n.*262-1674_*262-1670del
ENST00000683274.1:c.*180-1674_*180-1670del	ENSP00000507262.1:n.*180-1674_*180-1670del
ENST00000683435.1:c.*536-29_*536-25del	ENSP00000508092.1:n.*536-29_*536-25del
ENST00000268261.9:c.640-29_640-25del MANE Select	ENSP00000268261.4:n.640-29_640-25del
ENST00000268261.8:c.640-29_640-25del	ENSP00000268261.4:n.640-29_640-25del
ENST00000562025.1:n.174-29_174-25del
ENST00000562318.5:c.*362-29_*362-25del	ENSP00000454395.1:n.*362-29_*362-25del
ENST00000565221.5:c.*258-29_*258-25del	ENSP00000457932.1:n.*258-29_*258-25del
ENST00000566540.5:c.*262-29_*262-25del	ENSP00000454284.1:n.*262-29_*262-25del
ENST00000566604.5:c.*180-29_*180-25del	ENSP00000456774.1:n.*180-29_*180-25del
ENST00000566983.5:c.559-29_559-25del	ENSP00000457956.1:n.559-29_559-25del
ENST00000567697.1:n.3808-29_3808-25del
ENST00000569958.5:c.367-29_367-25del	ENSP00000456302.1:n.367-29_367-25del
ENST00000570076.5:c.*98-29_*98-25del	ENSP00000456961.1:n.*98-29_*98-25del
NM_000303.2:c.640-29_640-25del	NP_000294.1:n.640-29_640-25del
XM_005255374.3:c.391-29_391-25del	XP_005255431.1:n.391-29_391-25del
XM_011522538.1:c.640-7339_640-7335del	XP_011520840.1:n.640-7339_640-7335del
XM_005255374.4:c.391-29_391-25del	XP_005255431.1:n.391-29_391-25del
NM_000303.3:c.640-29_640-25del MANE Select	NP_000294.1:n.640-29_640-25del