Canonical Allele Identifier: CA720032875

Gene: MEFV

Linked Data

• dbSNP Id: rs1281925080
• MyVariant Identifiers: chr16:g.3299749_3299762del (hg19) ; chr16:g.3249749_3249762del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3249749_3249762del , CM000678.2:g.3249749_3249762del	GRCh38
NC_000016.9:g.3299749_3299762del , CM000678.1:g.3299749_3299762del	GRCh37
NC_000016.8:g.3239750_3239763del	NCBI36
NG_007871.1:g.11866_11879del , LRG_190:g.11866_11879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.929_942del MANE Select	ENSP00000219596.1:p.Ala310ValfsTer10
ENST00000219596.5:c.929_942del	ENSP00000219596.1:p.Ala310ValfsTer10
ENST00000339854.8:c.389_402del	ENSP00000339639.4:p.Ala130ValfsTer10
ENST00000536379.5:c.296_309del	ENSP00000445079.1:p.Ala99ValfsTer10
ENST00000536980.5:c.296_309del	ENSP00000444178.1:p.Ala99ValfsTer10
ENST00000537682.5:c.929_942del	ENSP00000438611.1:p.Ala310ValfsTer10
ENST00000538326.5:c.929_942del	ENSP00000437486.1:p.Ala310ValfsTer10
ENST00000539145.5:c.278-2516_278-2503del	ENSP00000444471.1:n.278-2516_278-2503del
ENST00000541159.5:c.296_309del	ENSP00000438711.1:p.Ala99ValfsTer10
ENST00000542898.5:c.1022_1035del	ENSP00000444615.1:p.Ala341ValfsTer10
ENST00000570511.5:c.911-2516_911-2503del	ENSP00000458312.1:n.911-2516_911-2503del
ENST00000572244.5:c.278-3215_278-3202del	ENSP00000461186.1:n.278-3215_278-3202del
ENST00000574583.5:c.278-2516_278-2503del	ENSP00000460269.1:n.278-2516_278-2503del
ENST00000576315.5:c.278-2516_278-2503del	ENSP00000460551.1:n.278-2516_278-2503del
ENST00000621655.1:c.296_309del	ENSP00000481436.1:p.Ala99ValfsTer10
NM_000243.2:c.929_942del , LRG_190t1:c.929_942del	NP_000234.1:p.Ala310ValfsTer10
NM_001198536.1:c.296_309del	NP_001185465.1:p.Ala99ValfsTer10
XM_017023236.2:c.929_942del	XP_016878725.1:p.Ala310ValfsTer10
XR_001751903.1:n.1118_1131del
NM_000243.3:c.929_942del MANE Select	NP_000234.1:p.Ala310ValfsTer10
NM_001198536.2:c.296_309del	NP_001185465.2:p.Ala99ValfsTer10