Canonical Allele Identifier: CA2202658510

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243155_3243157delinsGAC , CM000678.2:g.3243155_3243157delinsGAC	GRCh38
NC_000016.9:g.3293155_3293157delinsGAC , CM000678.1:g.3293155_3293157delinsGAC	GRCh37
NC_000016.8:g.3233156_3233158delinsGAC	NCBI36
NG_007871.1:g.18471_18473delinsGTC , LRG_190:g.18471_18473delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1451_1453delinsGTC
ENST00000219596.6:c.2330_2332delinsGTC MANE Select	ENSP00000219596.1:p.Gly777=
ENST00000219596.5:c.2330_2332delinsGTC	ENSP00000219596.1:p.Gly777=
ENST00000339854.8:c.1790_1792delinsGTC	ENSP00000339639.4:p.Gly597=
ENST00000536379.5:c.1697_1699delinsGTC	ENSP00000445079.1:p.Gly566=
ENST00000536980.5:c.*606_*608delinsGTC	ENSP00000444178.1:n.*606_*608delinsGTC
ENST00000537682.5:c.*606_*608delinsGTC	ENSP00000438611.1:n.*606_*608delinsGTC
ENST00000538326.5:c.*955_*957delinsGTC	ENSP00000437486.1:n.*955_*957delinsGTC
ENST00000539145.5:c.1251_1253delinsGTC	ENSP00000444471.1:n.1251_1253delinsGTC
ENST00000541159.5:c.1872_1874delinsGTC	ENSP00000438711.1:n.1872_1874delinsGTC
ENST00000542898.5:c.*606_*608delinsGTC	ENSP00000444615.1:n.*606_*608delinsGTC
ENST00000570511.5:c.1735_1737delinsGTC	ENSP00000458312.1:n.1735_1737delinsGTC
ENST00000572244.5:c.1020_1022delinsGTC	ENSP00000461186.1:n.1020_1022delinsGTC
ENST00000574583.5:c.1102_1104delinsGTC	ENSP00000460269.1:n.1102_1104delinsGTC
ENST00000576315.5:c.1135_1137delinsGTC	ENSP00000460551.1:n.1135_1137delinsGTC
ENST00000621655.1:c.1867_1869delinsGTC	ENSP00000481436.1:n.1867_1869delinsGTC
NM_000243.2:c.2330_2332delinsGTC , LRG_190t1:c.2330_2332delinsGTC	NP_000234.1:p.Gly777=
NM_001198536.1:c.*534_*536delinsGTC	NP_001185465.1:n.*534_*536delinsGTC
XM_017023236.2:c.2327_2329delinsGTC	XP_016878725.1:p.Gly776=
NM_000243.3:c.2330_2332delinsGTC MANE Select	NP_000234.1:p.Gly777=
NM_001198536.2:c.*534_*536delinsGTC	NP_001185465.2:n.*534_*536delinsGTC