Canonical Allele Identifier: CA2631334208

Gene: MEFV

Linked Data

• gnomAD v4: 16-3244400-AGGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244401_3244404del , CM000678.2:g.3244401_3244404del	GRCh38
NC_000016.9:g.3294401_3294404del , CM000678.1:g.3294401_3294404del	GRCh37
NC_000016.8:g.3234402_3234405del	NCBI36
NG_007871.1:g.17224_17227del , LRG_190:g.17224_17227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.847+69_847+72del
ENST00000219596.6:c.1726+69_1726+72del MANE Select	ENSP00000219596.1:n.1726+69_1726+72del
ENST00000219596.5:c.1726+69_1726+72del	ENSP00000219596.1:n.1726+69_1726+72del
ENST00000339854.8:c.1186+69_1186+72del	ENSP00000339639.4:n.1186+69_1186+72del
ENST00000536379.5:c.1093+69_1093+72del	ENSP00000445079.1:n.1093+69_1093+72del
ENST00000536980.5:c.1093+69_1093+72del	ENSP00000444178.1:n.1093+69_1093+72del
ENST00000537682.5:c.1726+69_1726+72del	ENSP00000438611.1:n.1726+69_1726+72del
ENST00000538326.5:c.*351+69_*351+72del	ENSP00000437486.1:n.*351+69_*351+72del
ENST00000539145.5:c.647+69_647+72del	ENSP00000444471.1:n.647+69_647+72del
ENST00000541159.5:c.1093+69_1093+72del	ENSP00000438711.1:n.1093+69_1093+72del
ENST00000542898.5:c.1819+69_1819+72del	ENSP00000444615.1:n.1819+69_1819+72del
ENST00000570511.5:c.1165-512_1165-509del	ENSP00000458312.1:n.1165-512_1165-509del
ENST00000572244.5:c.416+69_416+72del	ENSP00000461186.1:n.416+69_416+72del
ENST00000574583.5:c.532-512_532-509del	ENSP00000460269.1:n.532-512_532-509del
ENST00000576315.5:c.532-118_532-115del	ENSP00000460551.1:n.532-118_532-115del
ENST00000621655.1:c.1093+69_1093+72del	ENSP00000481436.1:n.1093+69_1093+72del
NM_000243.2:c.1726+69_1726+72del , LRG_190t1:c.1726+69_1726+72del	NP_000234.1:n.1726+69_1726+72del
NM_001198536.1:c.1093+69_1093+72del	NP_001185465.1:n.1093+69_1093+72del
XM_017023236.2:c.1723+69_1723+72del	XP_016878725.1:n.1723+69_1723+72del
XR_001751903.1:n.1915+69_1915+72del
NM_000243.3:c.1726+69_1726+72del MANE Select	NP_000234.1:n.1726+69_1726+72del
NM_001198536.2:c.1093+69_1093+72del	NP_001185465.2:n.1093+69_1093+72del