Canonical Allele Identifier: CA2206158362

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848119_8848120delinsTG , CM000678.2:g.8848119_8848120delinsTG	GRCh38
NC_000016.9:g.8941976_8941977delinsTG , CM000678.1:g.8941976_8941977delinsTG	GRCh37
NC_000016.8:g.8849477_8849478delinsTG	NCBI36
NG_009209.1:g.55307_55308delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4203_4204delinsTG
ENST00000682393.1:c.*258-1250_*258-1249delinsTG	ENSP00000506774.1:n.*258-1250_*258-1249delinsTG
ENST00000683094.1:c.*262-1250_*262-1249delinsTG	ENSP00000508230.1:n.*262-1250_*262-1249delinsTG
ENST00000683274.1:c.*180-1250_*180-1249delinsTG	ENSP00000507262.1:n.*180-1250_*180-1249delinsTG
ENST00000268261.9:c.*294_*295delinsTG MANE Select	ENSP00000268261.4:n.*294_*295delinsTG
ENST00000268261.8:c.*294_*295delinsTG	ENSP00000268261.4:n.*294_*295delinsTG
ENST00000566540.5:c.*657_*658delinsTG	ENSP00000454284.1:n.*657_*658delinsTG
ENST00000566604.5:c.*575_*576delinsTG	ENSP00000456774.1:n.*575_*576delinsTG
ENST00000567697.1:n.4203_4204delinsTG
ENST00000570076.5:c.*493_*494delinsTG	ENSP00000456961.1:n.*493_*494delinsTG
NM_000303.2:c.*294_*295delinsTG	NP_000294.1:n.*294_*295delinsTG
XM_005255374.3:c.*294_*295delinsTG	XP_005255431.1:n.*294_*295delinsTG
XM_011522538.1:c.640-6915_640-6914delinsTG	XP_011520840.1:n.640-6915_640-6914delinsTG
XM_005255374.4:c.*294_*295delinsTG	XP_005255431.1:n.*294_*295delinsTG
NM_000303.3:c.*294_*295delinsTG MANE Select	NP_000294.1:n.*294_*295delinsTG