Canonical Allele Identifier: CA2631646064

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847581-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847583_8847584del , CM000678.2:g.8847583_8847584del	GRCh38
NC_000016.9:g.8941440_8941441del , CM000678.1:g.8941440_8941441del	GRCh37
NC_000016.8:g.8848941_8848942del	NCBI36
NG_009209.1:g.54771_54772del

Transcript Alleles

HGVS	Amino-acid change
ENST00000567697.2:n.3808-141_3808-140del
ENST00000682393.1:c.*258-1786_*258-1785del	ENSP00000506774.1:n.*258-1786_*258-1785del
ENST00000683094.1:c.*262-1786_*262-1785del	ENSP00000508230.1:n.*262-1786_*262-1785del
ENST00000683274.1:c.*180-1786_*180-1785del	ENSP00000507262.1:n.*180-1786_*180-1785del
ENST00000683435.1:c.*536-141_*536-140del	ENSP00000508092.1:n.*536-141_*536-140del
ENST00000268261.9:c.640-141_640-140del MANE Select	ENSP00000268261.4:n.640-141_640-140del
ENST00000268261.8:c.640-141_640-140del	ENSP00000268261.4:n.640-141_640-140del
ENST00000562025.1:n.174-141_174-140del
ENST00000562318.5:c.*362-141_*362-140del	ENSP00000454395.1:n.*362-141_*362-140del
ENST00000565221.5:c.*258-141_*258-140del	ENSP00000457932.1:n.*258-141_*258-140del
ENST00000566540.5:c.*262-141_*262-140del	ENSP00000454284.1:n.*262-141_*262-140del
ENST00000566604.5:c.*180-141_*180-140del	ENSP00000456774.1:n.*180-141_*180-140del
ENST00000566983.5:c.559-141_559-140del	ENSP00000457956.1:n.559-141_559-140del
ENST00000567697.1:n.3808-141_3808-140del
ENST00000569958.5:c.367-141_367-140del	ENSP00000456302.1:n.367-141_367-140del
ENST00000570076.5:c.*98-141_*98-140del	ENSP00000456961.1:n.*98-141_*98-140del
NM_000303.2:c.640-141_640-140del	NP_000294.1:n.640-141_640-140del
XM_005255374.3:c.391-141_391-140del	XP_005255431.1:n.391-141_391-140del
XM_011522538.1:c.640-7451_640-7450del	XP_011520840.1:n.640-7451_640-7450del
XM_005255374.4:c.391-141_391-140del	XP_005255431.1:n.391-141_391-140del
NM_000303.3:c.640-141_640-140del MANE Select	NP_000294.1:n.640-141_640-140del