Canonical Allele Identifier: CA2202658879
Gene: MEFV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243872_3243880delinsGAGCGCCAA , CM000678.2:g.3243872_3243880delinsGAGCGCCAA GRCh38
NC_000016.9:g.3293872_3293880delinsGAGCGCCAA , CM000678.1:g.3293872_3293880delinsGAGCGCCAA GRCh37
NC_000016.8:g.3233873_3233881delinsGAGCGCCAA NCBI36
NG_007871.1:g.17748_17756delinsTTGGCGCTC , LRG_190:g.17748_17756delinsTTGGCGCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.893_901delinsTTGGCGCTC
ENST00000219596.6:c.1772_1780delinsTTGGCGCTC MANE Select ENSP00000219596.1:p.Ile591=
ENST00000219596.5:c.1772_1780delinsTTGGCGCTC ENSP00000219596.1:p.Ile591=
ENST00000339854.8:c.1232_1240delinsTTGGCGCTC ENSP00000339639.4:p.Ile411=
ENST00000536379.5:c.1139_1147delinsTTGGCGCTC ENSP00000445079.1:p.Ile380=
ENST00000536980.5:c.*48_*56delinsTTGGCGCTC ENSP00000444178.1:n.*48_*56delinsTTGGCGCTC
ENST00000537682.5:c.*48_*56delinsTTGGCGCTC ENSP00000438611.1:n.*48_*56delinsTTGGCGCTC
ENST00000538326.5:c.*397_*405delinsTTGGCGCTC ENSP00000437486.1:n.*397_*405delinsTTGGCGCTC
ENST00000539145.5:c.693_701delinsTTGGCGCTC ENSP00000444471.1:n.693_701delinsTTGGCGCTC
ENST00000541159.5:c.1314_1322delinsTTGGCGCTC ENSP00000438711.1:p.Asp438=
ENST00000542898.5:c.*48_*56delinsTTGGCGCTC ENSP00000444615.1:n.*48_*56delinsTTGGCGCTC
ENST00000570511.5:c.1177_1185delinsTTGGCGCTC ENSP00000458312.1:n.1177_1185delinsTTGGCGCTC
ENST00000572244.5:c.462_470delinsTTGGCGCTC ENSP00000461186.1:n.462_470delinsTTGGCGCTC
ENST00000574583.5:c.544_552delinsTTGGCGCTC ENSP00000460269.1:n.544_552delinsTTGGCGCTC
ENST00000576315.5:c.577_585delinsTTGGCGCTC ENSP00000460551.1:n.577_585delinsTTGGCGCTC
ENST00000621655.1:c.1309_1317delinsTTGGCGCTC ENSP00000481436.1:n.1309_1317delinsTTGGCGCTC
NM_000243.2:c.1772_1780delinsTTGGCGCTC , LRG_190t1:c.1772_1780delinsTTGGCGCTC NP_000234.1:p.Ile591=
NM_001198536.1:c.1314_1322delinsTTGGCGCTC NP_001185465.1:p.Asp438=
XM_017023236.2:c.1769_1777delinsTTGGCGCTC XP_016878725.1:p.Ile590=
XR_001751903.1:n.2079_2087delinsTTGGCGCTC
NM_000243.3:c.1772_1780delinsTTGGCGCTC MANE Select NP_000234.1:p.Ile591=
NM_001198536.2:c.1314_1322delinsTTGGCGCTC NP_001185465.2:p.Asp438=