Canonical Allele Identifier: CA720025829

Gene: MEFV

Linked Data

• dbSNP Id: rs1279674387
• gnomAD v4: 16-3244152-TG-T
• MyVariant Identifiers: chr16:g.3294153del (hg19) ; chr16:g.3244153del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244154del , CM000678.2:g.3244154del	GRCh38
NC_000016.9:g.3294154del , CM000678.1:g.3294154del	GRCh37
NC_000016.8:g.3234155del	NCBI36
NG_007871.1:g.17475del , LRG_190:g.17475del

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.880+101del
ENST00000219596.6:c.1759+101del MANE Select	ENSP00000219596.1:n.1759+101del
ENST00000219596.5:c.1759+101del	ENSP00000219596.1:n.1759+101del
ENST00000339854.8:c.1219+101del	ENSP00000339639.4:n.1219+101del
ENST00000536379.5:c.1126+101del	ENSP00000445079.1:n.1126+101del
ENST00000536980.5:c.*18del	ENSP00000444178.1:n.*18del
ENST00000537682.5:c.*18del	ENSP00000438611.1:n.*18del
ENST00000538326.5:c.*384+101del	ENSP00000437486.1:n.*384+101del
ENST00000539145.5:c.680+101del	ENSP00000444471.1:n.680+101del
ENST00000541159.5:c.1127-86del	ENSP00000438711.1:n.1127-86del
ENST00000542898.5:c.*18del	ENSP00000444615.1:n.*18del
ENST00000570511.5:c.1165-261del	ENSP00000458312.1:n.1165-261del
ENST00000572244.5:c.449+101del	ENSP00000461186.1:n.449+101del
ENST00000574583.5:c.532-261del	ENSP00000460269.1:n.532-261del
ENST00000576315.5:c.564+101del	ENSP00000460551.1:n.564+101del
ENST00000621655.1:c.1127-86del	ENSP00000481436.1:n.1127-86del
NM_000243.2:c.1759+101del , LRG_190t1:c.1759+101del	NP_000234.1:n.1759+101del
NM_001198536.1:c.1127-86del	NP_001185465.1:n.1127-86del
XM_017023236.2:c.1756+101del	XP_016878725.1:n.1756+101del
XR_001751903.1:n.2049del
NM_000243.3:c.1759+101del MANE Select	NP_000234.1:n.1759+101del
NM_001198536.2:c.1127-86del	NP_001185465.2:n.1127-86del