Canonical Allele Identifier: CA2202659093

Gene: MEFV

Linked Data

• dbSNP Id: rs1958905051

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244224_3244228del , CM000678.2:g.3244224_3244228del	GRCh38
NC_000016.9:g.3294224_3294228del , CM000678.1:g.3294224_3294228del	GRCh37
NC_000016.8:g.3234225_3234229del	NCBI36
NG_007871.1:g.17404_17408del , LRG_190:g.17404_17408del

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.880+30_880+34del
ENST00000219596.6:c.1759+30_1759+34del MANE Select	ENSP00000219596.1:n.1759+30_1759+34del
ENST00000219596.5:c.1759+30_1759+34del	ENSP00000219596.1:n.1759+30_1759+34del
ENST00000339854.8:c.1219+30_1219+34del	ENSP00000339639.4:n.1219+30_1219+34del
ENST00000536379.5:c.1126+30_1126+34del	ENSP00000445079.1:n.1126+30_1126+34del
ENST00000536980.5:c.1156_1160del	ENSP00000444178.1:p.Pro386GlyfsTer10
ENST00000537682.5:c.1789_1793del	ENSP00000438611.1:p.Pro597GlyfsTer10
ENST00000538326.5:c.*384+30_*384+34del	ENSP00000437486.1:n.*384+30_*384+34del
ENST00000539145.5:c.680+30_680+34del	ENSP00000444471.1:n.680+30_680+34del
ENST00000541159.5:c.1126+30_1126+34del	ENSP00000438711.1:n.1126+30_1126+34del
ENST00000542898.5:c.1882_1886del	ENSP00000444615.1:p.Pro628GlyfsTer10
ENST00000570511.5:c.1165-332_1165-328del	ENSP00000458312.1:n.1165-332_1165-328del
ENST00000572244.5:c.449+30_449+34del	ENSP00000461186.1:n.449+30_449+34del
ENST00000574583.5:c.532-332_532-328del	ENSP00000460269.1:n.532-332_532-328del
ENST00000576315.5:c.564+30_564+34del	ENSP00000460551.1:n.564+30_564+34del
ENST00000621655.1:c.1126+30_1126+34del	ENSP00000481436.1:n.1126+30_1126+34del
NM_000243.2:c.1759+30_1759+34del , LRG_190t1:c.1759+30_1759+34del	NP_000234.1:n.1759+30_1759+34del
NM_001198536.1:c.1126+30_1126+34del	NP_001185465.1:n.1126+30_1126+34del
XM_017023236.2:c.1756+30_1756+34del	XP_016878725.1:n.1756+30_1756+34del
XR_001751903.1:n.1978_1982del
NM_000243.3:c.1759+30_1759+34del MANE Select	NP_000234.1:n.1759+30_1759+34del
NM_001198536.2:c.1126+30_1126+34del	NP_001185465.2:n.1126+30_1126+34del