Canonical Allele Identifier: CA620713276

Gene: MEFV

Linked Data

• dbSNP Id: rs1567234851
• gnomAD v2: 16-3299725-TG-T
• gnomAD v4: 16-3249725-TG-T
• MyVariant Identifiers: chr16:g.3299726del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3249728del , CM000678.2:g.3249728del	GRCh38
NC_000016.9:g.3299728del , CM000678.1:g.3299728del	GRCh37
NC_000016.8:g.3239729del	NCBI36
NG_007871.1:g.11902del , LRG_190:g.11902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.965del MANE Select	ENSP00000219596.1:p.Pro322GlnfsTer?
ENST00000219596.5:c.965del	ENSP00000219596.1:p.Pro322GlnfsTer?
ENST00000339854.8:c.425del	ENSP00000339639.4:p.Pro142GlnfsTer?
ENST00000536379.5:c.332del	ENSP00000445079.1:p.Pro111GlnfsTer?
ENST00000536980.5:c.332del	ENSP00000444178.1:p.Pro111GlnfsTer?
ENST00000537682.5:c.965del	ENSP00000438611.1:p.Pro322GlnfsTer?
ENST00000538326.5:c.965del	ENSP00000437486.1:p.Pro322GlnfsTer?
ENST00000539145.5:c.278-2480del	ENSP00000444471.1:n.278-2480del
ENST00000541159.5:c.332del	ENSP00000438711.1:p.Pro111GlnfsTer?
ENST00000542898.5:c.1058del	ENSP00000444615.1:p.Pro353GlnfsTer?
ENST00000570511.5:c.911-2480del	ENSP00000458312.1:n.911-2480del
ENST00000572244.5:c.278-3179del	ENSP00000461186.1:n.278-3179del
ENST00000574583.5:c.278-2480del	ENSP00000460269.1:n.278-2480del
ENST00000576315.5:c.278-2480del	ENSP00000460551.1:n.278-2480del
ENST00000621655.1:c.332del	ENSP00000481436.1:p.Pro111GlnfsTer?
NM_000243.2:c.965del , LRG_190t1:c.965del	NP_000234.1:p.Pro322GlnfsTer?
NM_001198536.1:c.332del	NP_001185465.1:p.Pro111GlnfsTer?
XM_017023236.2:c.965del	XP_016878725.1:p.Pro322GlnfsTer?
XR_001751903.1:n.1154del
NM_000243.3:c.965del MANE Select	NP_000234.1:p.Pro322GlnfsTer?
NM_001198536.2:c.332del	NP_001185465.2:p.Pro111GlnfsTer?