Canonical Allele Identifier: CA7860377

Gene: MEFV

Linked Data

• dbSNP Id: rs759317062
• ExAC: 16:3304457 CGCAG / C
• gnomAD v2: 16-3304457-CGCAG-C
• gnomAD v4: 16-3254457-CGCAG-C
• MyVariant Identifiers: chr16:g.3304458_3304461del (hg19) ; chr16:g.3254458_3254461del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3254458_3254461del , CM000678.2:g.3254458_3254461del	GRCh38
NC_000016.9:g.3304458_3304461del , CM000678.1:g.3304458_3304461del	GRCh37
NC_000016.8:g.3244459_3244462del	NCBI36
NG_007871.1:g.7167_7170del , LRG_190:g.7167_7170del

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.607_610del MANE Select	ENSP00000219596.1:p.Leu203AlafsTer?
ENST00000219596.5:c.607_610del	ENSP00000219596.1:p.Leu203AlafsTer?
ENST00000339854.8:c.277+1850_277+1853del	ENSP00000339639.4:n.277+1850_277+1853del
ENST00000536379.5:c.277+1850_277+1853del	ENSP00000445079.1:n.277+1850_277+1853del
ENST00000536980.5:c.277+1850_277+1853del	ENSP00000444178.1:n.277+1850_277+1853del
ENST00000537682.5:c.607_610del	ENSP00000438611.1:p.Leu203AlafsTer?
ENST00000538326.5:c.607_610del	ENSP00000437486.1:p.Leu203AlafsTer?
ENST00000539145.5:c.277+1850_277+1853del	ENSP00000444471.1:n.277+1850_277+1853del
ENST00000541159.5:c.277+1850_277+1853del	ENSP00000438711.1:n.277+1850_277+1853del
ENST00000542898.5:c.607_610del	ENSP00000444615.1:p.Leu203AlafsTer?
ENST00000570511.5:c.607_610del	ENSP00000458312.1:p.Leu203AlafsTer?
ENST00000572244.5:c.277+1850_277+1853del	ENSP00000461186.1:n.277+1850_277+1853del
ENST00000574583.5:c.277+1850_277+1853del	ENSP00000460269.1:n.277+1850_277+1853del
ENST00000576315.5:c.277+1850_277+1853del	ENSP00000460551.1:n.277+1850_277+1853del
ENST00000621655.1:c.277+1850_277+1853del	ENSP00000481436.1:n.277+1850_277+1853del
NM_000243.2:c.607_610del , LRG_190t1:c.607_610del	NP_000234.1:p.Leu203AlafsTer?
NM_001198536.1:c.277+1850_277+1853del	NP_001185465.1:n.277+1850_277+1853del
XM_017023236.2:c.607_610del	XP_016878725.1:p.Leu203AlafsTer?
XR_001751903.1:n.796_799del
NM_000243.3:c.607_610del MANE Select	NP_000234.1:p.Leu203AlafsTer?
NM_001198536.2:c.277+1850_277+1853del	NP_001185465.2:n.277+1850_277+1853del