Canonical Allele Identifier: CA2202658649

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243408_3243411delinsCATT , CM000678.2:g.3243408_3243411delinsCATT	GRCh38
NC_000016.9:g.3293408_3293411delinsCATT , CM000678.1:g.3293408_3293411delinsCATT	GRCh37
NC_000016.8:g.3233409_3233412delinsCATT	NCBI36
NG_007871.1:g.18217_18220delinsAATG , LRG_190:g.18217_18220delinsAATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1197_1200delinsAATG
ENST00000219596.6:c.2076_2079delinsAATG MANE Select	ENSP00000219596.1:p.Ile692=
ENST00000219596.5:c.2076_2079delinsAATG	ENSP00000219596.1:p.Ile692=
ENST00000339854.8:c.1536_1539delinsAATG	ENSP00000339639.4:p.Ile512=
ENST00000536379.5:c.1443_1446delinsAATG	ENSP00000445079.1:p.Ile481=
ENST00000536980.5:c.*352_*355delinsAATG	ENSP00000444178.1:n.*352_*355delinsAATG
ENST00000537682.5:c.*352_*355delinsAATG	ENSP00000438611.1:n.*352_*355delinsAATG
ENST00000538326.5:c.*701_*704delinsAATG	ENSP00000437486.1:n.*701_*704delinsAATG
ENST00000539145.5:c.997_1000delinsAATG	ENSP00000444471.1:n.997_1000delinsAATG
ENST00000541159.5:c.1618_1621delinsAATG	ENSP00000438711.1:n.1618_1621delinsAATG
ENST00000542898.5:c.*352_*355delinsAATG	ENSP00000444615.1:n.*352_*355delinsAATG
ENST00000570511.5:c.1481_1484delinsAATG	ENSP00000458312.1:n.1481_1484delinsAATG
ENST00000572244.5:c.766_769delinsAATG	ENSP00000461186.1:n.766_769delinsAATG
ENST00000574583.5:c.848_851delinsAATG	ENSP00000460269.1:n.848_851delinsAATG
ENST00000576315.5:c.881_884delinsAATG	ENSP00000460551.1:n.881_884delinsAATG
ENST00000621655.1:c.1613_1616delinsAATG	ENSP00000481436.1:n.1613_1616delinsAATG
NM_000243.2:c.2076_2079delinsAATG , LRG_190t1:c.2076_2079delinsAATG	NP_000234.1:p.Ile692=
NM_001198536.1:c.*280_*283delinsAATG	NP_001185465.1:n.*280_*283delinsAATG
XM_017023236.2:c.2073_2076delinsAATG	XP_016878725.1:p.Ile691=
NM_000243.3:c.2076_2079delinsAATG MANE Select	NP_000234.1:p.Ile692=
NM_001198536.2:c.*280_*283delinsAATG	NP_001185465.2:n.*280_*283delinsAATG