Canonical Allele Identifier: CA2202658653

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243411_3243413delinsTAT , CM000678.2:g.3243411_3243413delinsTAT	GRCh38
NC_000016.9:g.3293411_3293413delinsTAT , CM000678.1:g.3293411_3293413delinsTAT	GRCh37
NC_000016.8:g.3233412_3233414delinsTAT	NCBI36
NG_007871.1:g.18215_18217delinsATA , LRG_190:g.18215_18217delinsATA

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1195_1197delinsATA
ENST00000219596.6:c.2074_2076delinsATA MANE Select	ENSP00000219596.1:p.Ile692=
ENST00000219596.5:c.2074_2076delinsATA	ENSP00000219596.1:p.Ile692=
ENST00000339854.8:c.1534_1536delinsATA	ENSP00000339639.4:p.Ile512=
ENST00000536379.5:c.1441_1443delinsATA	ENSP00000445079.1:p.Ile481=
ENST00000536980.5:c.*350_*352delinsATA	ENSP00000444178.1:n.*350_*352delinsATA
ENST00000537682.5:c.*350_*352delinsATA	ENSP00000438611.1:n.*350_*352delinsATA
ENST00000538326.5:c.*699_*701delinsATA	ENSP00000437486.1:n.*699_*701delinsATA
ENST00000539145.5:c.995_997delinsATA	ENSP00000444471.1:n.995_997delinsATA
ENST00000541159.5:c.1616_1618delinsATA	ENSP00000438711.1:n.1616_1618delinsATA
ENST00000542898.5:c.*350_*352delinsATA	ENSP00000444615.1:n.*350_*352delinsATA
ENST00000570511.5:c.1479_1481delinsATA	ENSP00000458312.1:n.1479_1481delinsATA
ENST00000572244.5:c.764_766delinsATA	ENSP00000461186.1:n.764_766delinsATA
ENST00000574583.5:c.846_848delinsATA	ENSP00000460269.1:n.846_848delinsATA
ENST00000576315.5:c.879_881delinsATA	ENSP00000460551.1:n.879_881delinsATA
ENST00000621655.1:c.1611_1613delinsATA	ENSP00000481436.1:n.1611_1613delinsATA
NM_000243.2:c.2074_2076delinsATA , LRG_190t1:c.2074_2076delinsATA	NP_000234.1:p.Ile692=
NM_001198536.1:c.*278_*280delinsATA	NP_001185465.1:n.*278_*280delinsATA
XM_017023236.2:c.2071_2073delinsATA	XP_016878725.1:p.Ile691=
NM_000243.3:c.2074_2076delinsATA MANE Select	NP_000234.1:p.Ile692=
NM_001198536.2:c.*278_*280delinsATA	NP_001185465.2:n.*278_*280delinsATA