Canonical Allele Identifier: CA2631333519

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243207-T-TGTCCCAGGGCTGAAGATAGGTTGAAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243209_3243236dup , CM000678.2:g.3243209_3243236dup	GRCh38
NC_000016.9:g.3293209_3293236dup , CM000678.1:g.3293209_3293236dup	GRCh37
NC_000016.8:g.3233210_3233237dup	NCBI36
NG_007871.1:g.18393_18420dup , LRG_190:g.18393_18420dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1373_1400dup
ENST00000219596.6:c.2252_2279dup MANE Select	ENSP00000219596.1:p.Arg761ProfsTer11
ENST00000219596.5:c.2252_2279dup	ENSP00000219596.1:p.Arg761ProfsTer11
ENST00000339854.8:c.1712_1739dup	ENSP00000339639.4:p.Arg581ProfsTer11
ENST00000536379.5:c.1619_1646dup	ENSP00000445079.1:p.Arg550ProfsTer11
ENST00000536980.5:c.*528_*555dup	ENSP00000444178.1:n.*528_*555dup
ENST00000537682.5:c.*528_*555dup	ENSP00000438611.1:n.*528_*555dup
ENST00000538326.5:c.*877_*904dup	ENSP00000437486.1:n.*877_*904dup
ENST00000539145.5:c.1173_1200dup	ENSP00000444471.1:n.1173_1200dup
ENST00000541159.5:c.1794_1821dup	ENSP00000438711.1:n.1794_1821dup
ENST00000542898.5:c.*528_*555dup	ENSP00000444615.1:n.*528_*555dup
ENST00000570511.5:c.1657_1684dup	ENSP00000458312.1:n.1657_1684dup
ENST00000572244.5:c.942_969dup	ENSP00000461186.1:n.942_969dup
ENST00000574583.5:c.1024_1051dup	ENSP00000460269.1:n.1024_1051dup
ENST00000576315.5:c.1057_1084dup	ENSP00000460551.1:n.1057_1084dup
ENST00000621655.1:c.1789_1816dup	ENSP00000481436.1:n.1789_1816dup
NM_000243.2:c.2252_2279dup , LRG_190t1:c.2252_2279dup	NP_000234.1:p.Arg761ProfsTer11
NM_001198536.1:c.*456_*483dup	NP_001185465.1:n.*456_*483dup
XM_017023236.2:c.2249_2276dup	XP_016878725.1:p.Arg760ProfsTer11
NM_000243.3:c.2252_2279dup MANE Select	NP_000234.1:p.Arg761ProfsTer11
NM_001198536.2:c.*456_*483dup	NP_001185465.2:n.*456_*483dup