Canonical Allele Identifier: CA645583233

Gene: MEFV

Linked Data

• COSMIC: COSM214528

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247176_3247179del , CM000678.2:g.3247176_3247179del	GRCh38
NC_000016.9:g.3297176_3297179del , CM000678.1:g.3297176_3297179del	GRCh37
NC_000016.8:g.3237177_3237180del	NCBI36
NG_007871.1:g.14451_14454del , LRG_190:g.14451_14454del

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1426_1429del MANE Select	ENSP00000219596.1:p.Gln476SerfsTer?
ENST00000219596.5:c.1426_1429del	ENSP00000219596.1:p.Gln476SerfsTer?
ENST00000339854.8:c.886_889del	ENSP00000339639.4:p.Gln296SerfsTer?
ENST00000536379.5:c.793_796del	ENSP00000445079.1:p.Gln265SerfsTer?
ENST00000536980.5:c.793_796del	ENSP00000444178.1:p.Gln265SerfsTer?
ENST00000537682.5:c.1426_1429del	ENSP00000438611.1:p.Gln476SerfsTer?
ENST00000538326.5:c.*51_*54del	ENSP00000437486.1:n.*51_*54del
ENST00000539145.5:c.347_350del	ENSP00000444471.1:n.347_350del
ENST00000539154.1:n.791_794del
ENST00000541159.5:c.793_796del	ENSP00000438711.1:p.Gln265SerfsTer?
ENST00000542898.5:c.1519_1522del	ENSP00000444615.1:p.Gln507SerfsTer?
ENST00000570511.5:c.980_983del	ENSP00000458312.1:n.980_983del
ENST00000572244.5:c.278-630_278-627del	ENSP00000461186.1:n.278-630_278-627del
ENST00000574583.5:c.347_350del	ENSP00000460269.1:n.347_350del
ENST00000576315.5:c.347_350del	ENSP00000460551.1:n.347_350del
ENST00000621655.1:c.793_796del	ENSP00000481436.1:p.Gln265SerfsTer?
NM_000243.2:c.1426_1429del , LRG_190t1:c.1426_1429del	NP_000234.1:p.Gln476SerfsTer?
NM_001198536.1:c.793_796del	NP_001185465.1:p.Gln265SerfsTer?
XM_017023236.2:c.1423_1426del	XP_016878725.1:p.Gln475SerfsTer?
XR_001751903.1:n.1615_1618del
NM_000243.3:c.1426_1429del MANE Select	NP_000234.1:p.Gln476SerfsTer?
NM_001198536.2:c.793_796del	NP_001185465.2:p.Gln265SerfsTer?