Canonical Allele Identifier: CA2631332914

Gene: MEFV

Linked Data

• gnomAD v4: 16-3242898-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242898_3242899insTT , CM000678.2:g.3242898_3242899insTT	GRCh38
NC_000016.9:g.3292898_3292899insTT , CM000678.1:g.3292898_3292899insTT	GRCh37
NC_000016.8:g.3232899_3232900insTT	NCBI36
NG_007871.1:g.18729_18730insAA , LRG_190:g.18729_18730insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1709_1710insAA
ENST00000219596.6:c.*242_*243insAA MANE Select	ENSP00000219596.1:n.*242_*243insAA
ENST00000219596.5:c.*242_*243insAA	ENSP00000219596.1:n.*242_*243insAA
ENST00000339854.8:c.*242_*243insAA	ENSP00000339639.4:n.*242_*243insAA
ENST00000536980.5:c.*864_*865insAA	ENSP00000444178.1:n.*864_*865insAA
ENST00000537682.5:c.*864_*865insAA	ENSP00000438611.1:n.*864_*865insAA
ENST00000538326.5:c.*1213_*1214insAA	ENSP00000437486.1:n.*1213_*1214insAA
ENST00000542898.5:c.*864_*865insAA	ENSP00000444615.1:n.*864_*865insAA
NM_000243.2:c.*242_*243insAA , LRG_190t1:c.*242_*243insAA	NP_000234.1:n.*242_*243insAA
NM_001198536.1:c.*792_*793insAA	NP_001185465.1:n.*792_*793insAA
NM_000243.3:c.*242_*243insAA MANE Select	NP_000234.1:n.*242_*243insAA
NM_001198536.2:c.*792_*793insAA	NP_001185465.2:n.*792_*793insAA