Canonical Allele Identifier: CA656221868

Gene: MEFV

Linked Data

• COSMIC: COSN20078650

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242996_3242997insA , CM000678.2:g.3242996_3242997insA	GRCh38
NC_000016.9:g.3292996_3292997insA , CM000678.1:g.3292996_3292997insA	GRCh37
NC_000016.8:g.3232997_3232998insA	NCBI36
NG_007871.1:g.18631_18632insT , LRG_190:g.18631_18632insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1611_1612insT
ENST00000219596.6:c.*144_*145insT MANE Select	ENSP00000219596.1:n.*144_*145insT
ENST00000219596.5:c.*144_*145insT	ENSP00000219596.1:n.*144_*145insT
ENST00000339854.8:c.*144_*145insT	ENSP00000339639.4:n.*144_*145insT
ENST00000536980.5:c.*766_*767insT	ENSP00000444178.1:n.*766_*767insT
ENST00000537682.5:c.*766_*767insT	ENSP00000438611.1:n.*766_*767insT
ENST00000538326.5:c.*1115_*1116insT	ENSP00000437486.1:n.*1115_*1116insT
ENST00000542898.5:c.*766_*767insT	ENSP00000444615.1:n.*766_*767insT
NM_000243.2:c.*144_*145insT , LRG_190t1:c.*144_*145insT	NP_000234.1:n.*144_*145insT
NM_001198536.1:c.*694_*695insT	NP_001185465.1:n.*694_*695insT
NM_000243.3:c.*144_*145insT MANE Select	NP_000234.1:n.*144_*145insT
NM_001198536.2:c.*694_*695insT	NP_001185465.2:n.*694_*695insT