Canonical Allele Identifier: CA7859975

Gene: MEFV

Linked Data

• dbSNP Id: rs776215456
• ExAC: 16:3294073 GAGTCAACTC / G
• gnomAD v2: 16-3294073-GAGTCAACTC-G
• gnomAD v4: 16-3244073-GAGTCAACTC-G
• MyVariant Identifiers: chr16:g.3294074_3294082del (hg19) ; chr16:g.3244074_3244082del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244080_3244088del , CM000678.2:g.3244080_3244088del	GRCh38
NC_000016.9:g.3294080_3294088del , CM000678.1:g.3294080_3294088del	GRCh37
NC_000016.8:g.3234081_3234089del	NCBI36
NG_007871.1:g.17546_17554del , LRG_190:g.17546_17554del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.880+172_880+180del
ENST00000219596.6:c.1759+172_1759+180del MANE Select	ENSP00000219596.1:n.1759+172_1759+180del
ENST00000219596.5:c.1759+172_1759+180del	ENSP00000219596.1:n.1759+172_1759+180del
ENST00000339854.8:c.1219+172_1219+180del	ENSP00000339639.4:n.1219+172_1219+180del
ENST00000536379.5:c.1126+172_1126+180del	ENSP00000445079.1:n.1126+172_1126+180del
ENST00000536980.5:c.*35+54_*35+62del	ENSP00000444178.1:n.*35+54_*35+62del
ENST00000537682.5:c.*35+54_*35+62del	ENSP00000438611.1:n.*35+54_*35+62del
ENST00000538326.5:c.*384+172_*384+180del	ENSP00000437486.1:n.*384+172_*384+180del
ENST00000539145.5:c.680+172_680+180del	ENSP00000444471.1:n.680+172_680+180del
ENST00000541159.5:c.1127-15_1127-7del	ENSP00000438711.1:n.1127-15_1127-7del
ENST00000542898.5:c.*35+54_*35+62del	ENSP00000444615.1:n.*35+54_*35+62del
ENST00000570511.5:c.1165-190_1165-182del	ENSP00000458312.1:n.1165-190_1165-182del
ENST00000572244.5:c.449+172_449+180del	ENSP00000461186.1:n.449+172_449+180del
ENST00000574583.5:c.532-190_532-182del	ENSP00000460269.1:n.532-190_532-182del
ENST00000576315.5:c.564+172_564+180del	ENSP00000460551.1:n.564+172_564+180del
ENST00000621655.1:c.1127-15_1127-7del	ENSP00000481436.1:n.1127-15_1127-7del
NM_000243.2:c.1759+172_1759+180del , LRG_190t1:c.1759+172_1759+180del	NP_000234.1:n.1759+172_1759+180del
NM_001198536.1:c.1127-15_1127-7del	NP_001185465.1:n.1127-15_1127-7del
XM_017023236.2:c.1756+172_1756+180del	XP_016878725.1:n.1756+172_1756+180del
XR_001751903.1:n.2066+54_2066+62del
NM_000243.3:c.1759+172_1759+180del MANE Select	NP_000234.1:n.1759+172_1759+180del
NM_001198536.2:c.1127-15_1127-7del	NP_001185465.2:n.1127-15_1127-7del