Canonical Allele Identifier: CA2206158012

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847677_8847678delinsCG , CM000678.2:g.8847677_8847678delinsCG	GRCh38
NC_000016.9:g.8941534_8941535delinsCG , CM000678.1:g.8941534_8941535delinsCG	GRCh37
NC_000016.8:g.8849035_8849036delinsCG	NCBI36
NG_009209.1:g.54865_54866delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000567697.2:n.3808-47_3808-46delinsCG
ENST00000682393.1:c.*258-1692_*258-1691delinsCG	ENSP00000506774.1:n.*258-1692_*258-1691delinsCG
ENST00000683094.1:c.*262-1692_*262-1691delinsCG	ENSP00000508230.1:n.*262-1692_*262-1691delinsCG
ENST00000683274.1:c.*180-1692_*180-1691delinsCG	ENSP00000507262.1:n.*180-1692_*180-1691delinsCG
ENST00000683435.1:c.*536-47_*536-46delinsCG	ENSP00000508092.1:n.*536-47_*536-46delinsCG
ENST00000268261.9:c.640-47_640-46delinsCG MANE Select	ENSP00000268261.4:n.640-47_640-46delinsCG
ENST00000268261.8:c.640-47_640-46delinsCG	ENSP00000268261.4:n.640-47_640-46delinsCG
ENST00000562025.1:n.174-47_174-46delinsCG
ENST00000562318.5:c.*362-47_*362-46delinsCG	ENSP00000454395.1:n.*362-47_*362-46delinsCG
ENST00000565221.5:c.*258-47_*258-46delinsCG	ENSP00000457932.1:n.*258-47_*258-46delinsCG
ENST00000566540.5:c.*262-47_*262-46delinsCG	ENSP00000454284.1:n.*262-47_*262-46delinsCG
ENST00000566604.5:c.*180-47_*180-46delinsCG	ENSP00000456774.1:n.*180-47_*180-46delinsCG
ENST00000566983.5:c.559-47_559-46delinsCG	ENSP00000457956.1:n.559-47_559-46delinsCG
ENST00000567697.1:n.3808-47_3808-46delinsCG
ENST00000569958.5:c.367-47_367-46delinsCG	ENSP00000456302.1:n.367-47_367-46delinsCG
ENST00000570076.5:c.*98-47_*98-46delinsCG	ENSP00000456961.1:n.*98-47_*98-46delinsCG
NM_000303.2:c.640-47_640-46delinsCG	NP_000294.1:n.640-47_640-46delinsCG
XM_005255374.3:c.391-47_391-46delinsCG	XP_005255431.1:n.391-47_391-46delinsCG
XM_011522538.1:c.640-7357_640-7356delinsCG	XP_011520840.1:n.640-7357_640-7356delinsCG
XM_005255374.4:c.391-47_391-46delinsCG	XP_005255431.1:n.391-47_391-46delinsCG
NM_000303.3:c.640-47_640-46delinsCG MANE Select	NP_000294.1:n.640-47_640-46delinsCG