Canonical Allele Identifier: CA2206157970

Gene: PMM2

Linked Data

• dbSNP Id: rs2060935694
• gnomAD v4: 16-8847608-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847612_8847613del , CM000678.2:g.8847612_8847613del	GRCh38
NC_000016.9:g.8941469_8941470del , CM000678.1:g.8941469_8941470del	GRCh37
NC_000016.8:g.8848970_8848971del	NCBI36
NG_009209.1:g.54800_54801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3808-112_3808-111del
ENST00000682393.1:c.*258-1757_*258-1756del	ENSP00000506774.1:n.*258-1757_*258-1756del
ENST00000683094.1:c.*262-1757_*262-1756del	ENSP00000508230.1:n.*262-1757_*262-1756del
ENST00000683274.1:c.*180-1757_*180-1756del	ENSP00000507262.1:n.*180-1757_*180-1756del
ENST00000683435.1:c.*536-112_*536-111del	ENSP00000508092.1:n.*536-112_*536-111del
ENST00000268261.9:c.640-112_640-111del MANE Select	ENSP00000268261.4:n.640-112_640-111del
ENST00000268261.8:c.640-112_640-111del	ENSP00000268261.4:n.640-112_640-111del
ENST00000562025.1:n.174-112_174-111del
ENST00000562318.5:c.*362-112_*362-111del	ENSP00000454395.1:n.*362-112_*362-111del
ENST00000565221.5:c.*258-112_*258-111del	ENSP00000457932.1:n.*258-112_*258-111del
ENST00000566540.5:c.*262-112_*262-111del	ENSP00000454284.1:n.*262-112_*262-111del
ENST00000566604.5:c.*180-112_*180-111del	ENSP00000456774.1:n.*180-112_*180-111del
ENST00000566983.5:c.559-112_559-111del	ENSP00000457956.1:n.559-112_559-111del
ENST00000567697.1:n.3808-112_3808-111del
ENST00000569958.5:c.367-112_367-111del	ENSP00000456302.1:n.367-112_367-111del
ENST00000570076.5:c.*98-112_*98-111del	ENSP00000456961.1:n.*98-112_*98-111del
NM_000303.2:c.640-112_640-111del	NP_000294.1:n.640-112_640-111del
XM_005255374.3:c.391-112_391-111del	XP_005255431.1:n.391-112_391-111del
XM_011522538.1:c.640-7422_640-7421del	XP_011520840.1:n.640-7422_640-7421del
XM_005255374.4:c.391-112_391-111del	XP_005255431.1:n.391-112_391-111del
NM_000303.3:c.640-112_640-111del MANE Select	NP_000294.1:n.640-112_640-111del