Canonical Allele Identifier: CA2631334101

Gene: MEFV

Linked Data

• gnomAD v4: 16-3244153-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244153_3244154insT , CM000678.2:g.3244153_3244154insT	GRCh38
NC_000016.9:g.3294153_3294154insT , CM000678.1:g.3294153_3294154insT	GRCh37
NC_000016.8:g.3234154_3234155insT	NCBI36
NG_007871.1:g.17474_17475insA , LRG_190:g.17474_17475insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.880+100_880+101insA
ENST00000219596.6:c.1759+100_1759+101insA MANE Select	ENSP00000219596.1:n.1759+100_1759+101insA
ENST00000219596.5:c.1759+100_1759+101insA	ENSP00000219596.1:n.1759+100_1759+101insA
ENST00000339854.8:c.1219+100_1219+101insA	ENSP00000339639.4:n.1219+100_1219+101insA
ENST00000536379.5:c.1126+100_1126+101insA	ENSP00000445079.1:n.1126+100_1126+101insA
ENST00000536980.5:c.*17_*18insA	ENSP00000444178.1:n.*17_*18insA
ENST00000537682.5:c.*17_*18insA	ENSP00000438611.1:n.*17_*18insA
ENST00000538326.5:c.*384+100_*384+101insA	ENSP00000437486.1:n.*384+100_*384+101insA
ENST00000539145.5:c.680+100_680+101insA	ENSP00000444471.1:n.680+100_680+101insA
ENST00000541159.5:c.1127-87_1127-86insA	ENSP00000438711.1:n.1127-87_1127-86insA
ENST00000542898.5:c.*17_*18insA	ENSP00000444615.1:n.*17_*18insA
ENST00000570511.5:c.1165-262_1165-261insA	ENSP00000458312.1:n.1165-262_1165-261insA
ENST00000572244.5:c.449+100_449+101insA	ENSP00000461186.1:n.449+100_449+101insA
ENST00000574583.5:c.532-262_532-261insA	ENSP00000460269.1:n.532-262_532-261insA
ENST00000576315.5:c.564+100_564+101insA	ENSP00000460551.1:n.564+100_564+101insA
ENST00000621655.1:c.1127-87_1127-86insA	ENSP00000481436.1:n.1127-87_1127-86insA
NM_000243.2:c.1759+100_1759+101insA , LRG_190t1:c.1759+100_1759+101insA	NP_000234.1:n.1759+100_1759+101insA
NM_001198536.1:c.1127-87_1127-86insA	NP_001185465.1:n.1127-87_1127-86insA
XM_017023236.2:c.1756+100_1756+101insA	XP_016878725.1:n.1756+100_1756+101insA
XR_001751903.1:n.2048_2049insA
NM_000243.3:c.1759+100_1759+101insA MANE Select	NP_000234.1:n.1759+100_1759+101insA
NM_001198536.2:c.1127-87_1127-86insA	NP_001185465.2:n.1127-87_1127-86insA