Canonical Allele Identifier: CA2202662015

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3249663_3249664delinsTG , CM000678.2:g.3249663_3249664delinsTG	GRCh38
NC_000016.9:g.3299663_3299664delinsTG , CM000678.1:g.3299663_3299664delinsTG	GRCh37
NC_000016.8:g.3239664_3239665delinsTG	NCBI36
NG_007871.1:g.11964_11965delinsCA , LRG_190:g.11964_11965delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1027_1028delinsCA MANE Select	ENSP00000219596.1:p.Gln343=
ENST00000219596.5:c.1027_1028delinsCA	ENSP00000219596.1:p.Gln343=
ENST00000339854.8:c.487_488delinsCA	ENSP00000339639.4:p.Gln163=
ENST00000536379.5:c.394_395delinsCA	ENSP00000445079.1:p.Gln132=
ENST00000536980.5:c.394_395delinsCA	ENSP00000444178.1:p.Gln132=
ENST00000537682.5:c.1027_1028delinsCA	ENSP00000438611.1:p.Gln343=
ENST00000538326.5:c.1027_1028delinsCA	ENSP00000437486.1:p.Gln343=
ENST00000539145.5:c.278-2418_278-2417delinsCA	ENSP00000444471.1:n.278-2418_278-2417delinsCA
ENST00000541159.5:c.394_395delinsCA	ENSP00000438711.1:p.Gln132=
ENST00000542898.5:c.1120_1121delinsCA	ENSP00000444615.1:p.Gln374=
ENST00000570511.5:c.911-2418_911-2417delinsCA	ENSP00000458312.1:n.911-2418_911-2417delinsCA
ENST00000572244.5:c.278-3117_278-3116delinsCA	ENSP00000461186.1:n.278-3117_278-3116delinsCA
ENST00000574583.5:c.278-2418_278-2417delinsCA	ENSP00000460269.1:n.278-2418_278-2417delinsCA
ENST00000576315.5:c.278-2418_278-2417delinsCA	ENSP00000460551.1:n.278-2418_278-2417delinsCA
ENST00000621655.1:c.394_395delinsCA	ENSP00000481436.1:p.Gln132=
NM_000243.2:c.1027_1028delinsCA , LRG_190t1:c.1027_1028delinsCA	NP_000234.1:p.Gln343=
NM_001198536.1:c.394_395delinsCA	NP_001185465.1:p.Gln132=
XM_017023236.2:c.1027_1028delinsCA	XP_016878725.1:p.Gln343=
XR_001751903.1:n.1216_1217delinsCA
NM_000243.3:c.1027_1028delinsCA MANE Select	NP_000234.1:p.Gln343=
NM_001198536.2:c.394_395delinsCA	NP_001185465.2:p.Gln132=