Canonical Allele Identifier: CA2631646268

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848094-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848095_8848096del , CM000678.2:g.8848095_8848096del	GRCh38
NC_000016.9:g.8941952_8941953del , CM000678.1:g.8941952_8941953del	GRCh37
NC_000016.8:g.8849453_8849454del	NCBI36
NG_009209.1:g.55283_55284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4179_4180del
ENST00000682393.1:c.*258-1274_*258-1273del	ENSP00000506774.1:n.*258-1274_*258-1273del
ENST00000683094.1:c.*262-1274_*262-1273del	ENSP00000508230.1:n.*262-1274_*262-1273del
ENST00000683274.1:c.*180-1274_*180-1273del	ENSP00000507262.1:n.*180-1274_*180-1273del
ENST00000268261.9:c.*270_*271del MANE Select	ENSP00000268261.4:n.*270_*271del
ENST00000268261.8:c.*270_*271del	ENSP00000268261.4:n.*270_*271del
ENST00000562025.1:n.545_546del
ENST00000566540.5:c.*633_*634del	ENSP00000454284.1:n.*633_*634del
ENST00000566604.5:c.*551_*552del	ENSP00000456774.1:n.*551_*552del
ENST00000567697.1:n.4179_4180del
ENST00000570076.5:c.*469_*470del	ENSP00000456961.1:n.*469_*470del
NM_000303.2:c.*270_*271del	NP_000294.1:n.*270_*271del
XM_005255374.3:c.*270_*271del	XP_005255431.1:n.*270_*271del
XM_011522538.1:c.640-6939_640-6938del	XP_011520840.1:n.640-6939_640-6938del
XM_005255374.4:c.*270_*271del	XP_005255431.1:n.*270_*271del
NM_000303.3:c.*270_*271del MANE Select	NP_000294.1:n.*270_*271del