Canonical Allele Identifier: CA2631334238

Gene: MEFV

Linked Data

• gnomAD v4: 16-3244511-T-TTCTGGTGGAGGAGTTGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244515_3244532dup , CM000678.2:g.3244515_3244532dup	GRCh38
NC_000016.9:g.3294515_3294532dup , CM000678.1:g.3294515_3294532dup	GRCh37
NC_000016.8:g.3234516_3234533dup	NCBI36
NG_007871.1:g.17099_17116dup , LRG_190:g.17099_17116dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.791_808dup
ENST00000219596.6:c.1670_1687dup MANE Select	ENSP00000219596.1:p.Gln562_Lys563insIleGlnLeuLeuHisGln
ENST00000219596.5:c.1670_1687dup	ENSP00000219596.1:p.Gln562_Lys563insIleGlnLeuLeuHisGln
ENST00000339854.8:c.1130_1147dup	ENSP00000339639.4:p.Gln382_Lys383insIleGlnLeuLeuHisGln
ENST00000536379.5:c.1037_1054dup	ENSP00000445079.1:p.Gln351_Lys352insIleGlnLeuLeuHisGln
ENST00000536980.5:c.1037_1054dup	ENSP00000444178.1:p.Gln351_Lys352insIleGlnLeuLeuHisGln
ENST00000537682.5:c.1670_1687dup	ENSP00000438611.1:p.Gln562_Lys563insIleGlnLeuLeuHisGln
ENST00000538326.5:c.*295_*312dup	ENSP00000437486.1:n.*295_*312dup
ENST00000539145.5:c.591_608dup	ENSP00000444471.1:n.591_608dup
ENST00000541159.5:c.1037_1054dup	ENSP00000438711.1:p.Gln351_Lys352insIleGlnLeuLeuHisGln
ENST00000542898.5:c.1763_1780dup	ENSP00000444615.1:p.Gln593_Lys594insIleGlnLeuLeuHisGln
ENST00000570511.5:c.1165-637_1165-620dup	ENSP00000458312.1:n.1165-637_1165-620dup
ENST00000572244.5:c.360_377dup	ENSP00000461186.1:n.360_377dup
ENST00000574583.5:c.532-637_532-620dup	ENSP00000460269.1:n.532-637_532-620dup
ENST00000576315.5:c.532-243_532-226dup	ENSP00000460551.1:n.532-243_532-226dup
ENST00000621655.1:c.1037_1054dup	ENSP00000481436.1:p.Gln351_Lys352insIleGlnLeuLeuHisGln
NM_000243.2:c.1670_1687dup , LRG_190t1:c.1670_1687dup	NP_000234.1:p.Gln562_Lys563insIleGlnLeuLeuHisGln
NM_001198536.1:c.1037_1054dup	NP_001185465.1:p.Gln351_Lys352insIleGlnLeuLeuHisGln
XM_017023236.2:c.1667_1684dup	XP_016878725.1:p.Gln561_Lys562insIleGlnLeuLeuHisGln
XR_001751903.1:n.1859_1876dup
NM_000243.3:c.1670_1687dup MANE Select	NP_000234.1:p.Gln562_Lys563insIleGlnLeuLeuHisGln
NM_001198536.2:c.1037_1054dup	NP_001185465.2:p.Gln351_Lys352insIleGlnLeuLeuHisGln