Canonical Allele Identifier: CA2631356251

Gene: MEFV

Linked Data

• gnomAD v4: 16-3254940-C-CAGAGTGCCGGGAATACA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3254940_3254941insAGAGTGCCGGGAATACA , CM000678.2:g.3254940_3254941insAGAGTGCCGGGAATACA	GRCh38
NC_000016.9:g.3304940_3304941insAGAGTGCCGGGAATACA , CM000678.1:g.3304940_3304941insAGAGTGCCGGGAATACA	GRCh37
NC_000016.8:g.3244941_3244942insAGAGTGCCGGGAATACA	NCBI36
NG_007871.1:g.6687_6688insTGTATTCCCGGCACTCT , LRG_190:g.6687_6688insTGTATTCCCGGCACTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.278-151_278-150insTGTATTCCCGGCACTCT MANE Select	ENSP00000219596.1:n.278-151_278-150insTGTATTCCCGGCACTCT
ENST00000219596.5:c.278-151_278-150insTGTATTCCCGGCACTCT	ENSP00000219596.1:n.278-151_278-150insTGTATTCCCGGCACTCT
ENST00000339854.8:c.277+1370_277+1371insTGTATTCCCGGCACTCT	ENSP00000339639.4:n.277+1370_277+1371insTGTATTCCCGGCACTCT
ENST00000536379.5:c.277+1370_277+1371insTGTATTCCCGGCACTCT	ENSP00000445079.1:n.277+1370_277+1371insTGTATTCCCGGCACTCT
ENST00000536980.5:c.277+1370_277+1371insTGTATTCCCGGCACTCT	ENSP00000444178.1:n.277+1370_277+1371insTGTATTCCCGGCACTCT
ENST00000537682.5:c.278-151_278-150insTGTATTCCCGGCACTCT	ENSP00000438611.1:n.278-151_278-150insTGTATTCCCGGCACTCT
ENST00000538326.5:c.278-151_278-150insTGTATTCCCGGCACTCT	ENSP00000437486.1:n.278-151_278-150insTGTATTCCCGGCACTCT
ENST00000539145.5:c.277+1370_277+1371insTGTATTCCCGGCACTCT	ENSP00000444471.1:n.277+1370_277+1371insTGTATTCCCGGCACTCT
ENST00000541159.5:c.277+1370_277+1371insTGTATTCCCGGCACTCT	ENSP00000438711.1:n.277+1370_277+1371insTGTATTCCCGGCACTCT
ENST00000542898.5:c.278-151_278-150insTGTATTCCCGGCACTCT	ENSP00000444615.1:n.278-151_278-150insTGTATTCCCGGCACTCT
ENST00000570511.5:c.278-151_278-150insTGTATTCCCGGCACTCT	ENSP00000458312.1:n.278-151_278-150insTGTATTCCCGGCACTCT
ENST00000572244.5:c.277+1370_277+1371insTGTATTCCCGGCACTCT	ENSP00000461186.1:n.277+1370_277+1371insTGTATTCCCGGCACTCT
ENST00000574583.5:c.277+1370_277+1371insTGTATTCCCGGCACTCT	ENSP00000460269.1:n.277+1370_277+1371insTGTATTCCCGGCACTCT
ENST00000576315.5:c.277+1370_277+1371insTGTATTCCCGGCACTCT	ENSP00000460551.1:n.277+1370_277+1371insTGTATTCCCGGCACTCT
ENST00000621655.1:c.277+1370_277+1371insTGTATTCCCGGCACTCT	ENSP00000481436.1:n.277+1370_277+1371insTGTATTCCCGGCACTCT
NM_000243.2:c.278-151_278-150insTGTATTCCCGGCACTCT , LRG_190t1:c.278-151_278-150insTGTATTCCCGGCACTCT	NP_000234.1:n.278-151_278-150insTGTATTCCCGGCACTCT
NM_001198536.1:c.277+1370_277+1371insTGTATTCCCGGCACTCT	NP_001185465.1:n.277+1370_277+1371insTGTATTCCCGGCACTCT
XM_017023236.2:c.278-151_278-150insTGTATTCCCGGCACTCT	XP_016878725.1:n.278-151_278-150insTGTATTCCCGGCACTCT
XR_001751903.1:n.467-151_467-150insTGTATTCCCGGCACTCT
NM_000243.3:c.278-151_278-150insTGTATTCCCGGCACTCT MANE Select	NP_000234.1:n.278-151_278-150insTGTATTCCCGGCACTCT
NM_001198536.2:c.277+1370_277+1371insTGTATTCCCGGCACTCT	NP_001185465.2:n.277+1370_277+1371insTGTATTCCCGGCACTCT