Canonical Allele Identifier: CA2631642359

Gene: PMM2

Linked Data

• gnomAD v4: 16-8806534-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806537dup , CM000678.2:g.8806537dup	GRCh38
NC_000016.9:g.8900394dup , CM000678.1:g.8900394dup	GRCh37
NC_000016.8:g.8807895dup	NCBI36
NG_009209.1:g.13725dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.347+130dup	ENSP00000507849.1:n.347+130dup
ENST00000682393.1:c.179-4542dup	ENSP00000506774.1:n.179-4542dup
ENST00000683094.1:c.*69+130dup	ENSP00000508230.1:n.*69+130dup
ENST00000683274.1:c.347+130dup	ENSP00000507262.1:n.347+130dup
ENST00000683435.1:c.*343+130dup	ENSP00000508092.1:n.*343+130dup
ENST00000268261.9:c.347+130dup MANE Select	ENSP00000268261.4:n.347+130dup
ENST00000268261.8:c.347+130dup	ENSP00000268261.4:n.347+130dup
ENST00000562318.5:c.*69+130dup	ENSP00000454395.1:n.*69+130dup
ENST00000562448.1:n.441dup
ENST00000564030.5:n.539dup
ENST00000564069.1:c.318+130dup
ENST00000565221.5:c.179-4542dup	ENSP00000457932.1:n.179-4542dup
ENST00000565896.5:c.*145+4148dup	ENSP00000456024.1:n.*145+4148dup
ENST00000566540.5:c.*69+130dup	ENSP00000454284.1:n.*69+130dup
ENST00000566604.5:c.347+130dup	ENSP00000456774.1:n.347+130dup
ENST00000566983.5:c.266+130dup	ENSP00000457956.1:n.266+130dup
ENST00000568602.5:c.*200+130dup	ENSP00000455066.1:n.*200+130dup
ENST00000569958.5:c.178+4627dup	ENSP00000456302.1:n.178+4627dup
ENST00000570076.5:c.178+4627dup	ENSP00000456961.1:n.178+4627dup
ENST00000570134.5:c.*69+130dup	ENSP00000456275.1:n.*69+130dup
NM_000303.2:c.347+130dup	NP_000294.1:n.347+130dup
XM_005255372.3:c.347+130dup	XP_005255429.1:n.347+130dup
XM_005255373.3:c.98+130dup	XP_005255430.1:n.98+130dup
XM_005255374.3:c.98+130dup	XP_005255431.1:n.98+130dup
XM_011522538.1:c.347+130dup	XP_011520840.1:n.347+130dup
XM_011522539.1:c.-28-4542dup	XP_011520841.1:n.-28-4542dup
XM_005255374.4:c.98+130dup	XP_005255431.1:n.98+130dup
NM_000303.3:c.347+130dup MANE Select	NP_000294.1:n.347+130dup