Canonical Allele Identifier: CA2202658397

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242941_3242943delinsCAT , CM000678.2:g.3242941_3242943delinsCAT	GRCh38
NC_000016.9:g.3292941_3292943delinsCAT , CM000678.1:g.3292941_3292943delinsCAT	GRCh37
NC_000016.8:g.3232942_3232944delinsCAT	NCBI36
NG_007871.1:g.18685_18687delinsATG , LRG_190:g.18685_18687delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1665_1667delinsATG
ENST00000219596.6:c.*198_*200delinsATG MANE Select	ENSP00000219596.1:n.*198_*200delinsATG
ENST00000219596.5:c.*198_*200delinsATG	ENSP00000219596.1:n.*198_*200delinsATG
ENST00000339854.8:c.*198_*200delinsATG	ENSP00000339639.4:n.*198_*200delinsATG
ENST00000536980.5:c.*820_*822delinsATG	ENSP00000444178.1:n.*820_*822delinsATG
ENST00000537682.5:c.*820_*822delinsATG	ENSP00000438611.1:n.*820_*822delinsATG
ENST00000538326.5:c.*1169_*1171delinsATG	ENSP00000437486.1:n.*1169_*1171delinsATG
ENST00000542898.5:c.*820_*822delinsATG	ENSP00000444615.1:n.*820_*822delinsATG
NM_000243.2:c.*198_*200delinsATG , LRG_190t1:c.*198_*200delinsATG	NP_000234.1:n.*198_*200delinsATG
NM_001198536.1:c.*748_*750delinsATG	NP_001185465.1:n.*748_*750delinsATG
NM_000243.3:c.*198_*200delinsATG MANE Select	NP_000234.1:n.*198_*200delinsATG
NM_001198536.2:c.*748_*750delinsATG	NP_001185465.2:n.*748_*750delinsATG