Canonical Allele Identifier: CA645583232

Gene: MEFV

Linked Data

• COSMIC: COSM5220413 ; COSM5220414

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247158del , CM000678.2:g.3247158del	GRCh38
NC_000016.9:g.3297158del , CM000678.1:g.3297158del	GRCh37
NC_000016.8:g.3237159del	NCBI36
NG_007871.1:g.14471del , LRG_190:g.14471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1446del MANE Select	ENSP00000219596.1:p.Ser483HisfsTer?
ENST00000219596.5:c.1446del	ENSP00000219596.1:p.Ser483HisfsTer?
ENST00000339854.8:c.906del	ENSP00000339639.4:p.Ser303HisfsTer?
ENST00000536379.5:c.813del	ENSP00000445079.1:p.Ser272HisfsTer?
ENST00000536980.5:c.813del	ENSP00000444178.1:p.Ser272HisfsTer?
ENST00000537682.5:c.1446del	ENSP00000438611.1:p.Ser483HisfsTer?
ENST00000538326.5:c.*71del	ENSP00000437486.1:n.*71del
ENST00000539145.5:c.367del	ENSP00000444471.1:n.367del
ENST00000539154.1:n.811del
ENST00000541159.5:c.813del	ENSP00000438711.1:p.Ser272HisfsTer?
ENST00000542898.5:c.1539del	ENSP00000444615.1:p.Ser514HisfsTer?
ENST00000570511.5:c.1000del	ENSP00000458312.1:n.1000del
ENST00000572244.5:c.278-610del	ENSP00000461186.1:n.278-610del
ENST00000574583.5:c.367del	ENSP00000460269.1:n.367del
ENST00000576315.5:c.367del	ENSP00000460551.1:n.367del
ENST00000621655.1:c.813del	ENSP00000481436.1:p.Ser272HisfsTer?
NM_000243.2:c.1446del , LRG_190t1:c.1446del	NP_000234.1:p.Ser483HisfsTer?
NM_001198536.1:c.813del	NP_001185465.1:p.Ser272HisfsTer?
XM_017023236.2:c.1443del	XP_016878725.1:p.Ser482HisfsTer?
XR_001751903.1:n.1635del
NM_000243.3:c.1446del MANE Select	NP_000234.1:p.Ser483HisfsTer?
NM_001198536.2:c.813del	NP_001185465.2:p.Ser272HisfsTer?