Canonical Allele Identifier: CA2206157952

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847567_8847568delinsAC , CM000678.2:g.8847567_8847568delinsAC	GRCh38
NC_000016.9:g.8941424_8941425delinsAC , CM000678.1:g.8941424_8941425delinsAC	GRCh37
NC_000016.8:g.8848925_8848926delinsAC	NCBI36
NG_009209.1:g.54755_54756delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3808-157_3808-156delinsAC
ENST00000682393.1:c.*258-1802_*258-1801delinsAC	ENSP00000506774.1:n.*258-1802_*258-1801delinsAC
ENST00000683094.1:c.*262-1802_*262-1801delinsAC	ENSP00000508230.1:n.*262-1802_*262-1801delinsAC
ENST00000683274.1:c.*180-1802_*180-1801delinsAC	ENSP00000507262.1:n.*180-1802_*180-1801delinsAC
ENST00000683435.1:c.*536-157_*536-156delinsAC	ENSP00000508092.1:n.*536-157_*536-156delinsAC
ENST00000268261.9:c.640-157_640-156delinsAC MANE Select	ENSP00000268261.4:n.640-157_640-156delinsAC
ENST00000268261.8:c.640-157_640-156delinsAC	ENSP00000268261.4:n.640-157_640-156delinsAC
ENST00000562025.1:n.174-157_174-156delinsAC
ENST00000562318.5:c.*362-157_*362-156delinsAC	ENSP00000454395.1:n.*362-157_*362-156delinsAC
ENST00000565221.5:c.*258-157_*258-156delinsAC	ENSP00000457932.1:n.*258-157_*258-156delinsAC
ENST00000566540.5:c.*262-157_*262-156delinsAC	ENSP00000454284.1:n.*262-157_*262-156delinsAC
ENST00000566604.5:c.*180-157_*180-156delinsAC	ENSP00000456774.1:n.*180-157_*180-156delinsAC
ENST00000566983.5:c.559-157_559-156delinsAC	ENSP00000457956.1:n.559-157_559-156delinsAC
ENST00000567697.1:n.3808-157_3808-156delinsAC
ENST00000569958.5:c.367-157_367-156delinsAC	ENSP00000456302.1:n.367-157_367-156delinsAC
ENST00000570076.5:c.*98-157_*98-156delinsAC	ENSP00000456961.1:n.*98-157_*98-156delinsAC
NM_000303.2:c.640-157_640-156delinsAC	NP_000294.1:n.640-157_640-156delinsAC
XM_005255374.3:c.391-157_391-156delinsAC	XP_005255431.1:n.391-157_391-156delinsAC
XM_011522538.1:c.640-7467_640-7466delinsAC	XP_011520840.1:n.640-7467_640-7466delinsAC
XM_005255374.4:c.391-157_391-156delinsAC	XP_005255431.1:n.391-157_391-156delinsAC
NM_000303.3:c.640-157_640-156delinsAC MANE Select	NP_000294.1:n.640-157_640-156delinsAC