Canonical Allele Identifier: CA2202664931

Gene: MEFV

Linked Data

• dbSNP Id: rs1959089095
• gnomAD v4: 16-3254642-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3254643_3254644del , CM000678.2:g.3254643_3254644del	GRCh38
NC_000016.9:g.3304643_3304644del , CM000678.1:g.3304643_3304644del	GRCh37
NC_000016.8:g.3244644_3244645del	NCBI36
NG_007871.1:g.6984_6985del , LRG_190:g.6984_6985del

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.424_425del MANE Select	ENSP00000219596.1:p.Leu142AlafsTer?
ENST00000219596.5:c.424_425del	ENSP00000219596.1:p.Leu142AlafsTer?
ENST00000339854.8:c.277+1667_277+1668del	ENSP00000339639.4:n.277+1667_277+1668del
ENST00000536379.5:c.277+1667_277+1668del	ENSP00000445079.1:n.277+1667_277+1668del
ENST00000536980.5:c.277+1667_277+1668del	ENSP00000444178.1:n.277+1667_277+1668del
ENST00000537682.5:c.424_425del	ENSP00000438611.1:p.Leu142AlafsTer?
ENST00000538326.5:c.424_425del	ENSP00000437486.1:p.Leu142AlafsTer?
ENST00000539145.5:c.277+1667_277+1668del	ENSP00000444471.1:n.277+1667_277+1668del
ENST00000541159.5:c.277+1667_277+1668del	ENSP00000438711.1:n.277+1667_277+1668del
ENST00000542898.5:c.424_425del	ENSP00000444615.1:p.Leu142AlafsTer?
ENST00000570511.5:c.424_425del	ENSP00000458312.1:p.Leu142AlafsTer?
ENST00000572244.5:c.277+1667_277+1668del	ENSP00000461186.1:n.277+1667_277+1668del
ENST00000574583.5:c.277+1667_277+1668del	ENSP00000460269.1:n.277+1667_277+1668del
ENST00000576315.5:c.277+1667_277+1668del	ENSP00000460551.1:n.277+1667_277+1668del
ENST00000621655.1:c.277+1667_277+1668del	ENSP00000481436.1:n.277+1667_277+1668del
NM_000243.2:c.424_425del , LRG_190t1:c.424_425del	NP_000234.1:p.Leu142AlafsTer?
NM_001198536.1:c.277+1667_277+1668del	NP_001185465.1:n.277+1667_277+1668del
XM_017023236.2:c.424_425del	XP_016878725.1:p.Leu142AlafsTer?
XR_001751903.1:n.613_614del
NM_000243.3:c.424_425del MANE Select	NP_000234.1:p.Leu142AlafsTer?
NM_001198536.2:c.277+1667_277+1668del	NP_001185465.2:n.277+1667_277+1668del