Canonical Allele Identifier: CA2631335339

Gene: MEFV

Linked Data

• gnomAD v4: 16-3247054-CCAGTTCCCCAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247058_3247069del , CM000678.2:g.3247058_3247069del	GRCh38
NC_000016.9:g.3297058_3297069del , CM000678.1:g.3297058_3297069del	GRCh37
NC_000016.8:g.3237059_3237070del	NCBI36
NG_007871.1:g.14562_14573del , LRG_190:g.14562_14573del

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1537_1548del MANE Select	ENSP00000219596.1:p.Ile513_Leu516del
ENST00000219596.5:c.1537_1548del	ENSP00000219596.1:p.Ile513_Leu516del
ENST00000339854.8:c.997_1008del	ENSP00000339639.4:p.Ile333_Leu336del
ENST00000536379.5:c.904_915del	ENSP00000445079.1:p.Ile302_Leu305del
ENST00000536980.5:c.904_915del	ENSP00000444178.1:p.Ile302_Leu305del
ENST00000537682.5:c.1537_1548del	ENSP00000438611.1:p.Ile513_Leu516del
ENST00000538326.5:c.*162_*173del	ENSP00000437486.1:n.*162_*173del
ENST00000539145.5:c.458_469del	ENSP00000444471.1:n.458_469del
ENST00000539154.1:n.902_913del
ENST00000541159.5:c.904_915del	ENSP00000438711.1:p.Ile302_Leu305del
ENST00000542898.5:c.1630_1641del	ENSP00000444615.1:p.Ile544_Leu547del
ENST00000570511.5:c.1091_1102del	ENSP00000458312.1:n.1091_1102del
ENST00000572244.5:c.278-519_278-508del	ENSP00000461186.1:n.278-519_278-508del
ENST00000574583.5:c.458_469del	ENSP00000460269.1:n.458_469del
ENST00000576315.5:c.458_469del	ENSP00000460551.1:n.458_469del
ENST00000621655.1:c.904_915del	ENSP00000481436.1:p.Ile302_Leu305del
NM_000243.2:c.1537_1548del , LRG_190t1:c.1537_1548del	NP_000234.1:p.Ile513_Leu516del
NM_001198536.1:c.904_915del	NP_001185465.1:p.Ile302_Leu305del
XM_017023236.2:c.1534_1545del	XP_016878725.1:p.Ile512_Leu515del
XR_001751903.1:n.1726_1737del
NM_000243.3:c.1537_1548del MANE Select	NP_000234.1:p.Ile513_Leu516del
NM_001198536.2:c.904_915del	NP_001185465.2:p.Ile302_Leu305del