Canonical Allele Identifier: CA2206158170

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847901_8847903delinsCCA , CM000678.2:g.8847901_8847903delinsCCA	GRCh38
NC_000016.9:g.8941758_8941760delinsCCA , CM000678.1:g.8941758_8941760delinsCCA	GRCh37
NC_000016.8:g.8849259_8849261delinsCCA	NCBI36
NG_009209.1:g.55089_55091delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3985_3987delinsCCA
ENST00000682393.1:c.*258-1468_*258-1466delinsCCA	ENSP00000506774.1:n.*258-1468_*258-1466delinsCCA
ENST00000683094.1:c.*262-1468_*262-1466delinsCCA	ENSP00000508230.1:n.*262-1468_*262-1466delinsCCA
ENST00000683274.1:c.*180-1468_*180-1466delinsCCA	ENSP00000507262.1:n.*180-1468_*180-1466delinsCCA
ENST00000683435.1:c.*713_*715delinsCCA	ENSP00000508092.1:n.*713_*715delinsCCA
ENST00000268261.9:c.*76_*78delinsCCA MANE Select	ENSP00000268261.4:n.*76_*78delinsCCA
ENST00000268261.8:c.*76_*78delinsCCA	ENSP00000268261.4:n.*76_*78delinsCCA
ENST00000562025.1:n.351_353delinsCCA
ENST00000562318.5:c.*539_*541delinsCCA	ENSP00000454395.1:n.*539_*541delinsCCA
ENST00000565221.5:c.*435_*437delinsCCA	ENSP00000457932.1:n.*435_*437delinsCCA
ENST00000566540.5:c.*439_*441delinsCCA	ENSP00000454284.1:n.*439_*441delinsCCA
ENST00000566604.5:c.*357_*359delinsCCA	ENSP00000456774.1:n.*357_*359delinsCCA
ENST00000567697.1:n.3985_3987delinsCCA
ENST00000569958.5:c.*76_*78delinsCCA	ENSP00000456302.1:n.*76_*78delinsCCA
ENST00000570076.5:c.*275_*277delinsCCA	ENSP00000456961.1:n.*275_*277delinsCCA
NM_000303.2:c.*76_*78delinsCCA	NP_000294.1:n.*76_*78delinsCCA
XM_005255374.3:c.*76_*78delinsCCA	XP_005255431.1:n.*76_*78delinsCCA
XM_011522538.1:c.640-7133_640-7131delinsCCA	XP_011520840.1:n.640-7133_640-7131delinsCCA
XM_005255374.4:c.*76_*78delinsCCA	XP_005255431.1:n.*76_*78delinsCCA
NM_000303.3:c.*76_*78delinsCCA MANE Select	NP_000294.1:n.*76_*78delinsCCA