Canonical Allele Identifier: CA2202658445

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243038_3243039delinsGC , CM000678.2:g.3243038_3243039delinsGC	GRCh38
NC_000016.9:g.3293038_3293039delinsGC , CM000678.1:g.3293038_3293039delinsGC	GRCh37
NC_000016.8:g.3233039_3233040delinsGC	NCBI36
NG_007871.1:g.18589_18590delinsGC , LRG_190:g.18589_18590delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1569_1570delinsGC
ENST00000219596.6:c.*102_*103delinsGC MANE Select	ENSP00000219596.1:n.*102_*103delinsGC
ENST00000219596.5:c.*102_*103delinsGC	ENSP00000219596.1:n.*102_*103delinsGC
ENST00000339854.8:c.*102_*103delinsGC	ENSP00000339639.4:n.*102_*103delinsGC
ENST00000536980.5:c.*724_*725delinsGC	ENSP00000444178.1:n.*724_*725delinsGC
ENST00000537682.5:c.*724_*725delinsGC	ENSP00000438611.1:n.*724_*725delinsGC
ENST00000538326.5:c.*1073_*1074delinsGC	ENSP00000437486.1:n.*1073_*1074delinsGC
ENST00000542898.5:c.*724_*725delinsGC	ENSP00000444615.1:n.*724_*725delinsGC
NM_000243.2:c.*102_*103delinsGC , LRG_190t1:c.*102_*103delinsGC	NP_000234.1:n.*102_*103delinsGC
NM_001198536.1:c.*652_*653delinsGC	NP_001185465.1:n.*652_*653delinsGC
NM_000243.3:c.*102_*103delinsGC MANE Select	NP_000234.1:n.*102_*103delinsGC
NM_001198536.2:c.*652_*653delinsGC	NP_001185465.2:n.*652_*653delinsGC