Canonical Allele Identifier: CA2731751221

Gene: MEFV

Linked Data

• dbSNP Id: rs2141672001

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3249723del , CM000678.2:g.3249723del	GRCh38
NC_000016.9:g.3299723del , CM000678.1:g.3299723del	GRCh37
NC_000016.8:g.3239724del	NCBI36
NG_007871.1:g.11906del , LRG_190:g.11906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.969del MANE Select	ENSP00000219596.1:p.Asp324ThrfsTer?
ENST00000219596.5:c.969del	ENSP00000219596.1:p.Asp324ThrfsTer?
ENST00000339854.8:c.429del	ENSP00000339639.4:p.Asp144ThrfsTer?
ENST00000536379.5:c.336del	ENSP00000445079.1:p.Asp113ThrfsTer?
ENST00000536980.5:c.336del	ENSP00000444178.1:p.Asp113ThrfsTer?
ENST00000537682.5:c.969del	ENSP00000438611.1:p.Asp324ThrfsTer?
ENST00000538326.5:c.969del	ENSP00000437486.1:p.Asp324ThrfsTer?
ENST00000539145.5:c.278-2476del	ENSP00000444471.1:n.278-2476del
ENST00000541159.5:c.336del	ENSP00000438711.1:p.Asp113ThrfsTer?
ENST00000542898.5:c.1062del	ENSP00000444615.1:p.Asp355ThrfsTer?
ENST00000570511.5:c.911-2476del	ENSP00000458312.1:n.911-2476del
ENST00000572244.5:c.278-3175del	ENSP00000461186.1:n.278-3175del
ENST00000574583.5:c.278-2476del	ENSP00000460269.1:n.278-2476del
ENST00000576315.5:c.278-2476del	ENSP00000460551.1:n.278-2476del
ENST00000621655.1:c.336del	ENSP00000481436.1:p.Asp113ThrfsTer?
NM_000243.2:c.969del , LRG_190t1:c.969del	NP_000234.1:p.Asp324ThrfsTer?
NM_001198536.1:c.336del	NP_001185465.1:p.Asp113ThrfsTer?
XM_017023236.2:c.969del	XP_016878725.1:p.Asp324ThrfsTer?
XR_001751903.1:n.1158del
NM_000243.3:c.969del MANE Select	NP_000234.1:p.Asp324ThrfsTer?
NM_001198536.2:c.336del	NP_001185465.2:p.Asp113ThrfsTer?