Canonical Allele Identifier: CA2580613406

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1785563
• ClinVar RCV Id: RCV002423875

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243408_3243410dup , CM000678.2:g.3243408_3243410dup	GRCh38
NC_000016.9:g.3293408_3293410dup , CM000678.1:g.3293408_3293410dup	GRCh37
NC_000016.8:g.3233409_3233411dup	NCBI36
NG_007871.1:g.18222_18224dup , LRG_190:g.18222_18224dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1202_1204dup
ENST00000219596.6:c.2081_2083dup MANE Select	ENSP00000219596.1:p.Met694_Lys695insMet
ENST00000219596.5:c.2081_2083dup	ENSP00000219596.1:p.Met694_Lys695insMet
ENST00000339854.8:c.1541_1543dup	ENSP00000339639.4:p.Met514_Lys515insMet
ENST00000536379.5:c.1448_1450dup	ENSP00000445079.1:p.Met483_Lys484insMet
ENST00000536980.5:c.*357_*359dup	ENSP00000444178.1:n.*357_*359dup
ENST00000537682.5:c.*357_*359dup	ENSP00000438611.1:n.*357_*359dup
ENST00000538326.5:c.*706_*708dup	ENSP00000437486.1:n.*706_*708dup
ENST00000539145.5:c.1002_1004dup	ENSP00000444471.1:n.1002_1004dup
ENST00000541159.5:c.1623_1625dup	ENSP00000438711.1:n.1623_1625dup
ENST00000542898.5:c.*357_*359dup	ENSP00000444615.1:n.*357_*359dup
ENST00000570511.5:c.1486_1488dup	ENSP00000458312.1:n.1486_1488dup
ENST00000572244.5:c.771_773dup	ENSP00000461186.1:n.771_773dup
ENST00000574583.5:c.853_855dup	ENSP00000460269.1:n.853_855dup
ENST00000576315.5:c.886_888dup	ENSP00000460551.1:n.886_888dup
ENST00000621655.1:c.1618_1620dup	ENSP00000481436.1:n.1618_1620dup
NM_000243.2:c.2081_2083dup , LRG_190t1:c.2081_2083dup	NP_000234.1:p.Met694_Lys695insMet
NM_001198536.1:c.*285_*287dup	NP_001185465.1:n.*285_*287dup
XM_017023236.2:c.2078_2080dup	XP_016878725.1:p.Met693_Lys694insMet
NM_000243.3:c.2081_2083dup MANE Select	NP_000234.1:p.Met694_Lys695insMet
NM_001198536.2:c.*285_*287dup	NP_001185465.2:n.*285_*287dup