Canonical Allele Identifier: CA2202658995

Gene: MEFV

Linked Data

• dbSNP Id: rs1958902748

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244079_3244095del , CM000678.2:g.3244079_3244095del	GRCh38
NC_000016.9:g.3294079_3294095del , CM000678.1:g.3294079_3294095del	GRCh37
NC_000016.8:g.3234080_3234096del	NCBI36
NG_007871.1:g.17542_17558del , LRG_190:g.17542_17558del

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.880+168_881-178del
ENST00000219596.6:c.1759+168_1760-178del MANE Select	ENSP00000219596.1:n.1759+168_1760-178del
ENST00000219596.5:c.1759+168_1760-178del	ENSP00000219596.1:n.1759+168_1760-178del
ENST00000339854.8:c.1219+168_1220-178del	ENSP00000339639.4:n.1219+168_1220-178del
ENST00000536379.5:c.1126+168_1127-178del	ENSP00000445079.1:n.1126+168_1127-178del
ENST00000536980.5:c.*35+50_*35+66del	ENSP00000444178.1:n.*35+50_*35+66del
ENST00000537682.5:c.*35+50_*35+66del	ENSP00000438611.1:n.*35+50_*35+66del
ENST00000538326.5:c.*384+168_*385-178del	ENSP00000437486.1:n.*384+168_*385-178del
ENST00000539145.5:c.680+168_681-178del	ENSP00000444471.1:n.680+168_681-178del
ENST00000541159.5:c.1127-19_1127-3del	ENSP00000438711.1:n.1127-19_1127-3del
ENST00000542898.5:c.*35+50_*35+66del	ENSP00000444615.1:n.*35+50_*35+66del
ENST00000570511.5:c.1165-194_1165-178del	ENSP00000458312.1:n.1165-194_1165-178del
ENST00000572244.5:c.449+168_450-178del	ENSP00000461186.1:n.449+168_450-178del
ENST00000574583.5:c.532-194_532-178del	ENSP00000460269.1:n.532-194_532-178del
ENST00000576315.5:c.564+168_565-178del	ENSP00000460551.1:n.564+168_565-178del
ENST00000621655.1:c.1127-19_1127-3del	ENSP00000481436.1:n.1127-19_1127-3del
NM_000243.2:c.1759+168_1760-178del , LRG_190t1:c.1759+168_1760-178del	NP_000234.1:n.1759+168_1760-178del
NM_001198536.1:c.1127-19_1127-3del	NP_001185465.1:n.1127-19_1127-3del
XM_017023236.2:c.1756+168_1757-178del	XP_016878725.1:n.1756+168_1757-178del
XR_001751903.1:n.2066+50_2066+66del
NM_000243.3:c.1759+168_1760-178del MANE Select	NP_000234.1:n.1759+168_1760-178del
NM_001198536.2:c.1127-19_1127-3del	NP_001185465.2:n.1127-19_1127-3del