Canonical Allele Identifier: CA2202659248

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244545_3244547delinsCTT , CM000678.2:g.3244545_3244547delinsCTT	GRCh38
NC_000016.9:g.3294545_3294547delinsCTT , CM000678.1:g.3294545_3294547delinsCTT	GRCh37
NC_000016.8:g.3234546_3234548delinsCTT	NCBI36
NG_007871.1:g.17081_17083delinsAAG , LRG_190:g.17081_17083delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.773_775delinsAAG
ENST00000219596.6:c.1652_1654delinsAAG MANE Select	ENSP00000219596.1:p.Gln551=
ENST00000219596.5:c.1652_1654delinsAAG	ENSP00000219596.1:p.Gln551=
ENST00000339854.8:c.1112_1114delinsAAG	ENSP00000339639.4:p.Gln371=
ENST00000536379.5:c.1019_1021delinsAAG	ENSP00000445079.1:p.Gln340=
ENST00000536980.5:c.1019_1021delinsAAG	ENSP00000444178.1:p.Gln340=
ENST00000537682.5:c.1652_1654delinsAAG	ENSP00000438611.1:p.Gln551=
ENST00000538326.5:c.*277_*279delinsAAG	ENSP00000437486.1:n.*277_*279delinsAAG
ENST00000539145.5:c.573_575delinsAAG	ENSP00000444471.1:n.573_575delinsAAG
ENST00000541159.5:c.1019_1021delinsAAG	ENSP00000438711.1:p.Gln340=
ENST00000542898.5:c.1745_1747delinsAAG	ENSP00000444615.1:p.Gln582=
ENST00000570511.5:c.1165-655_1165-653delinsAAG	ENSP00000458312.1:n.1165-655_1165-653delinsAAG
ENST00000572244.5:c.342_344delinsAAG	ENSP00000461186.1:n.342_344delinsAAG
ENST00000574583.5:c.532-655_532-653delinsAAG	ENSP00000460269.1:n.532-655_532-653delinsAAG
ENST00000576315.5:c.532-261_532-259delinsAAG	ENSP00000460551.1:n.532-261_532-259delinsAAG
ENST00000621655.1:c.1019_1021delinsAAG	ENSP00000481436.1:p.Gln340=
NM_000243.2:c.1652_1654delinsAAG , LRG_190t1:c.1652_1654delinsAAG	NP_000234.1:p.Gln551=
NM_001198536.1:c.1019_1021delinsAAG	NP_001185465.1:p.Gln340=
XM_017023236.2:c.1649_1651delinsAAG	XP_016878725.1:p.Gln550=
XR_001751903.1:n.1841_1843delinsAAG
NM_000243.3:c.1652_1654delinsAAG MANE Select	NP_000234.1:p.Gln551=
NM_001198536.2:c.1019_1021delinsAAG	NP_001185465.2:p.Gln340=