Canonical Allele Identifier: CA493208429

Gene: MEFV

Linked Data

• dbSNP Id: rs1308920023
• gnomAD v2: 16-3294531-CTTTTG-C
• gnomAD v4: 16-3244531-CTTTTG-C
• MyVariant Identifiers: chr16:g.3294532_3294536del (hg19) ; chr16:g.3244532_3244536del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244536_3244540del , CM000678.2:g.3244536_3244540del	GRCh38
NC_000016.9:g.3294536_3294540del , CM000678.1:g.3294536_3294540del	GRCh37
NC_000016.8:g.3234537_3234541del	NCBI36
NG_007871.1:g.17092_17096del , LRG_190:g.17092_17096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.784_788del
ENST00000219596.6:c.1663_1667del MANE Select	ENSP00000219596.1:p.Gln555AspfsTer?
ENST00000219596.5:c.1663_1667del	ENSP00000219596.1:p.Gln555AspfsTer?
ENST00000339854.8:c.1123_1127del	ENSP00000339639.4:p.Gln375AspfsTer?
ENST00000536379.5:c.1030_1034del	ENSP00000445079.1:p.Gln344AspfsTer?
ENST00000536980.5:c.1030_1034del	ENSP00000444178.1:p.Gln344AspfsTer?
ENST00000537682.5:c.1663_1667del	ENSP00000438611.1:p.Gln555AspfsTer?
ENST00000538326.5:c.*288_*292del	ENSP00000437486.1:n.*288_*292del
ENST00000539145.5:c.584_588del	ENSP00000444471.1:n.584_588del
ENST00000541159.5:c.1030_1034del	ENSP00000438711.1:p.Gln344AspfsTer?
ENST00000542898.5:c.1756_1760del	ENSP00000444615.1:p.Gln586AspfsTer?
ENST00000570511.5:c.1165-644_1165-640del	ENSP00000458312.1:n.1165-644_1165-640del
ENST00000572244.5:c.353_357del	ENSP00000461186.1:n.353_357del
ENST00000574583.5:c.532-644_532-640del	ENSP00000460269.1:n.532-644_532-640del
ENST00000576315.5:c.532-250_532-246del	ENSP00000460551.1:n.532-250_532-246del
ENST00000621655.1:c.1030_1034del	ENSP00000481436.1:p.Gln344AspfsTer?
NM_000243.2:c.1663_1667del , LRG_190t1:c.1663_1667del	NP_000234.1:p.Gln555AspfsTer?
NM_001198536.1:c.1030_1034del	NP_001185465.1:p.Gln344AspfsTer?
XM_017023236.2:c.1660_1664del	XP_016878725.1:p.Gln554AspfsTer?
XR_001751903.1:n.1852_1856del
NM_000243.3:c.1663_1667del MANE Select	NP_000234.1:p.Gln555AspfsTer?
NM_001198536.2:c.1030_1034del	NP_001185465.2:p.Gln344AspfsTer?