Canonical Allele Identifier: CA2202658669

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243441_3243443delinsCAG , CM000678.2:g.3243441_3243443delinsCAG	GRCh38
NC_000016.9:g.3293441_3293443delinsCAG , CM000678.1:g.3293441_3293443delinsCAG	GRCh37
NC_000016.8:g.3233442_3233444delinsCAG	NCBI36
NG_007871.1:g.18185_18187delinsCTG , LRG_190:g.18185_18187delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1165_1167delinsCTG
ENST00000219596.6:c.2044_2046delinsCTG MANE Select	ENSP00000219596.1:p.Leu682=
ENST00000219596.5:c.2044_2046delinsCTG	ENSP00000219596.1:p.Leu682=
ENST00000339854.8:c.1504_1506delinsCTG	ENSP00000339639.4:p.Leu502=
ENST00000536379.5:c.1411_1413delinsCTG	ENSP00000445079.1:p.Leu471=
ENST00000536980.5:c.*320_*322delinsCTG	ENSP00000444178.1:n.*320_*322delinsCTG
ENST00000537682.5:c.*320_*322delinsCTG	ENSP00000438611.1:n.*320_*322delinsCTG
ENST00000538326.5:c.*669_*671delinsCTG	ENSP00000437486.1:n.*669_*671delinsCTG
ENST00000539145.5:c.965_967delinsCTG	ENSP00000444471.1:n.965_967delinsCTG
ENST00000541159.5:c.1586_1588delinsCTG	ENSP00000438711.1:n.1586_1588delinsCTG
ENST00000542898.5:c.*320_*322delinsCTG	ENSP00000444615.1:n.*320_*322delinsCTG
ENST00000570511.5:c.1449_1451delinsCTG	ENSP00000458312.1:n.1449_1451delinsCTG
ENST00000572244.5:c.734_736delinsCTG	ENSP00000461186.1:n.734_736delinsCTG
ENST00000574583.5:c.816_818delinsCTG	ENSP00000460269.1:n.816_818delinsCTG
ENST00000576315.5:c.849_851delinsCTG	ENSP00000460551.1:n.849_851delinsCTG
ENST00000621655.1:c.1581_1583delinsCTG	ENSP00000481436.1:n.1581_1583delinsCTG
NM_000243.2:c.2044_2046delinsCTG , LRG_190t1:c.2044_2046delinsCTG	NP_000234.1:p.Leu682=
NM_001198536.1:c.*248_*250delinsCTG	NP_001185465.1:n.*248_*250delinsCTG
XM_017023236.2:c.2041_2043delinsCTG	XP_016878725.1:p.Leu681=
NM_000243.3:c.2044_2046delinsCTG MANE Select	NP_000234.1:p.Leu682=
NM_001198536.2:c.*248_*250delinsCTG	NP_001185465.2:n.*248_*250delinsCTG