Canonical Allele Identifier: CA2202659047

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244151_3244153delinsTTG , CM000678.2:g.3244151_3244153delinsTTG	GRCh38
NC_000016.9:g.3294151_3294153delinsTTG , CM000678.1:g.3294151_3294153delinsTTG	GRCh37
NC_000016.8:g.3234152_3234154delinsTTG	NCBI36
NG_007871.1:g.17475_17477delinsCAA , LRG_190:g.17475_17477delinsCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.880+101_880+103delinsCAA
ENST00000219596.6:c.1759+101_1759+103delinsCAA MANE Select	ENSP00000219596.1:n.1759+101_1759+103delinsCAA
ENST00000219596.5:c.1759+101_1759+103delinsCAA	ENSP00000219596.1:n.1759+101_1759+103delinsCAA
ENST00000339854.8:c.1219+101_1219+103delinsCAA	ENSP00000339639.4:n.1219+101_1219+103delinsCAA
ENST00000536379.5:c.1126+101_1126+103delinsCAA	ENSP00000445079.1:n.1126+101_1126+103delinsCAA
ENST00000536980.5:c.*18_*20delinsCAA	ENSP00000444178.1:n.*18_*20delinsCAA
ENST00000537682.5:c.*18_*20delinsCAA	ENSP00000438611.1:n.*18_*20delinsCAA
ENST00000538326.5:c.*384+101_*384+103delinsCAA	ENSP00000437486.1:n.*384+101_*384+103delinsCAA
ENST00000539145.5:c.680+101_680+103delinsCAA	ENSP00000444471.1:n.680+101_680+103delinsCAA
ENST00000541159.5:c.1127-86_1127-84delinsCAA	ENSP00000438711.1:n.1127-86_1127-84delinsCAA
ENST00000542898.5:c.*18_*20delinsCAA	ENSP00000444615.1:n.*18_*20delinsCAA
ENST00000570511.5:c.1165-261_1165-259delinsCAA	ENSP00000458312.1:n.1165-261_1165-259delinsCAA
ENST00000572244.5:c.449+101_449+103delinsCAA	ENSP00000461186.1:n.449+101_449+103delinsCAA
ENST00000574583.5:c.532-261_532-259delinsCAA	ENSP00000460269.1:n.532-261_532-259delinsCAA
ENST00000576315.5:c.564+101_564+103delinsCAA	ENSP00000460551.1:n.564+101_564+103delinsCAA
ENST00000621655.1:c.1127-86_1127-84delinsCAA	ENSP00000481436.1:n.1127-86_1127-84delinsCAA
NM_000243.2:c.1759+101_1759+103delinsCAA , LRG_190t1:c.1759+101_1759+103delinsCAA	NP_000234.1:n.1759+101_1759+103delinsCAA
NM_001198536.1:c.1127-86_1127-84delinsCAA	NP_001185465.1:n.1127-86_1127-84delinsCAA
XM_017023236.2:c.1756+101_1756+103delinsCAA	XP_016878725.1:n.1756+101_1756+103delinsCAA
XR_001751903.1:n.2049_2051delinsCAA
NM_000243.3:c.1759+101_1759+103delinsCAA MANE Select	NP_000234.1:n.1759+101_1759+103delinsCAA
NM_001198536.2:c.1127-86_1127-84delinsCAA	NP_001185465.2:n.1127-86_1127-84delinsCAA