Canonical Allele Identifier: CA2202659089

Gene: MEFV

Linked Data

• dbSNP Id: rs1958904940
• gnomAD v4: 16-3244211-GCAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244216_3244218del , CM000678.2:g.3244216_3244218del	GRCh38
NC_000016.9:g.3294216_3294218del , CM000678.1:g.3294216_3294218del	GRCh37
NC_000016.8:g.3234217_3234219del	NCBI36
NG_007871.1:g.17414_17416del , LRG_190:g.17414_17416del

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.880+40_880+42del
ENST00000219596.6:c.1759+40_1759+42del MANE Select	ENSP00000219596.1:n.1759+40_1759+42del
ENST00000219596.5:c.1759+40_1759+42del	ENSP00000219596.1:n.1759+40_1759+42del
ENST00000339854.8:c.1219+40_1219+42del	ENSP00000339639.4:n.1219+40_1219+42del
ENST00000536379.5:c.1126+40_1126+42del	ENSP00000445079.1:n.1126+40_1126+42del
ENST00000536980.5:c.1166_1168del	ENSP00000444178.1:p.Val389del
ENST00000537682.5:c.1799_1801del	ENSP00000438611.1:p.Val600del
ENST00000538326.5:c.*384+40_*384+42del	ENSP00000437486.1:n.*384+40_*384+42del
ENST00000539145.5:c.680+40_680+42del	ENSP00000444471.1:n.680+40_680+42del
ENST00000541159.5:c.1126+40_1126+42del	ENSP00000438711.1:n.1126+40_1126+42del
ENST00000542898.5:c.1892_1894del	ENSP00000444615.1:p.Val631del
ENST00000570511.5:c.1165-322_1165-320del	ENSP00000458312.1:n.1165-322_1165-320del
ENST00000572244.5:c.449+40_449+42del	ENSP00000461186.1:n.449+40_449+42del
ENST00000574583.5:c.532-322_532-320del	ENSP00000460269.1:n.532-322_532-320del
ENST00000576315.5:c.564+40_564+42del	ENSP00000460551.1:n.564+40_564+42del
ENST00000621655.1:c.1126+40_1126+42del	ENSP00000481436.1:n.1126+40_1126+42del
NM_000243.2:c.1759+40_1759+42del , LRG_190t1:c.1759+40_1759+42del	NP_000234.1:n.1759+40_1759+42del
NM_001198536.1:c.1126+40_1126+42del	NP_001185465.1:n.1126+40_1126+42del
XM_017023236.2:c.1756+40_1756+42del	XP_016878725.1:n.1756+40_1756+42del
XR_001751903.1:n.1988_1990del
NM_000243.3:c.1759+40_1759+42del MANE Select	NP_000234.1:n.1759+40_1759+42del
NM_001198536.2:c.1126+40_1126+42del	NP_001185465.2:n.1126+40_1126+42del