Canonical Allele Identifier: CA2202659262

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244578_3244580delinsCTG , CM000678.2:g.3244578_3244580delinsCTG	GRCh38
NC_000016.9:g.3294578_3294580delinsCTG , CM000678.1:g.3294578_3294580delinsCTG	GRCh37
NC_000016.8:g.3234579_3234581delinsCTG	NCBI36
NG_007871.1:g.17048_17050delinsCAG , LRG_190:g.17048_17050delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.740_742delinsCAG
ENST00000219596.6:c.1619_1621delinsCAG MANE Select	ENSP00000219596.1:p.Thr540=
ENST00000219596.5:c.1619_1621delinsCAG	ENSP00000219596.1:p.Thr540=
ENST00000339854.8:c.1079_1081delinsCAG	ENSP00000339639.4:p.Thr360=
ENST00000536379.5:c.986_988delinsCAG	ENSP00000445079.1:p.Thr329=
ENST00000536980.5:c.986_988delinsCAG	ENSP00000444178.1:p.Thr329=
ENST00000537682.5:c.1619_1621delinsCAG	ENSP00000438611.1:p.Thr540=
ENST00000538326.5:c.*244_*246delinsCAG	ENSP00000437486.1:n.*244_*246delinsCAG
ENST00000539145.5:c.540_542delinsCAG	ENSP00000444471.1:n.540_542delinsCAG
ENST00000541159.5:c.986_988delinsCAG	ENSP00000438711.1:p.Thr329=
ENST00000542898.5:c.1712_1714delinsCAG	ENSP00000444615.1:p.Thr571=
ENST00000570511.5:c.1165-688_1165-686delinsCAG	ENSP00000458312.1:n.1165-688_1165-686delinsCAG
ENST00000572244.5:c.309_311delinsCAG	ENSP00000461186.1:n.309_311delinsCAG
ENST00000574583.5:c.532-688_532-686delinsCAG	ENSP00000460269.1:n.532-688_532-686delinsCAG
ENST00000576315.5:c.532-294_532-292delinsCAG	ENSP00000460551.1:n.532-294_532-292delinsCAG
ENST00000621655.1:c.986_988delinsCAG	ENSP00000481436.1:p.Thr329=
NM_000243.2:c.1619_1621delinsCAG , LRG_190t1:c.1619_1621delinsCAG	NP_000234.1:p.Thr540=
NM_001198536.1:c.986_988delinsCAG	NP_001185465.1:p.Thr329=
XM_017023236.2:c.1616_1618delinsCAG	XP_016878725.1:p.Thr539=
XR_001751903.1:n.1808_1810delinsCAG
NM_000243.3:c.1619_1621delinsCAG MANE Select	NP_000234.1:p.Thr540=
NM_001198536.2:c.986_988delinsCAG	NP_001185465.2:p.Thr329=