Canonical Allele Identifier: CA2631356230

Gene: MEFV

Linked Data

• gnomAD v4: 16-3254938-C-CCCAGAGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3254940_3254941insAGAGTGCC , CM000678.2:g.3254940_3254941insAGAGTGCC	GRCh38
NC_000016.9:g.3304940_3304941insAGAGTGCC , CM000678.1:g.3304940_3304941insAGAGTGCC	GRCh37
NC_000016.8:g.3244941_3244942insAGAGTGCC	NCBI36
NG_007871.1:g.6689_6690insCACTCTGG , LRG_190:g.6689_6690insCACTCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.278-149_278-148insCACTCTGG MANE Select	ENSP00000219596.1:n.278-149_278-148insCACTCTGG
ENST00000219596.5:c.278-149_278-148insCACTCTGG	ENSP00000219596.1:n.278-149_278-148insCACTCTGG
ENST00000339854.8:c.277+1372_277+1373insCACTCTGG	ENSP00000339639.4:n.277+1372_277+1373insCACTCTGG
ENST00000536379.5:c.277+1372_277+1373insCACTCTGG	ENSP00000445079.1:n.277+1372_277+1373insCACTCTGG
ENST00000536980.5:c.277+1372_277+1373insCACTCTGG	ENSP00000444178.1:n.277+1372_277+1373insCACTCTGG
ENST00000537682.5:c.278-149_278-148insCACTCTGG	ENSP00000438611.1:n.278-149_278-148insCACTCTGG
ENST00000538326.5:c.278-149_278-148insCACTCTGG	ENSP00000437486.1:n.278-149_278-148insCACTCTGG
ENST00000539145.5:c.277+1372_277+1373insCACTCTGG	ENSP00000444471.1:n.277+1372_277+1373insCACTCTGG
ENST00000541159.5:c.277+1372_277+1373insCACTCTGG	ENSP00000438711.1:n.277+1372_277+1373insCACTCTGG
ENST00000542898.5:c.278-149_278-148insCACTCTGG	ENSP00000444615.1:n.278-149_278-148insCACTCTGG
ENST00000570511.5:c.278-149_278-148insCACTCTGG	ENSP00000458312.1:n.278-149_278-148insCACTCTGG
ENST00000572244.5:c.277+1372_277+1373insCACTCTGG	ENSP00000461186.1:n.277+1372_277+1373insCACTCTGG
ENST00000574583.5:c.277+1372_277+1373insCACTCTGG	ENSP00000460269.1:n.277+1372_277+1373insCACTCTGG
ENST00000576315.5:c.277+1372_277+1373insCACTCTGG	ENSP00000460551.1:n.277+1372_277+1373insCACTCTGG
ENST00000621655.1:c.277+1372_277+1373insCACTCTGG	ENSP00000481436.1:n.277+1372_277+1373insCACTCTGG
NM_000243.2:c.278-149_278-148insCACTCTGG , LRG_190t1:c.278-149_278-148insCACTCTGG	NP_000234.1:n.278-149_278-148insCACTCTGG
NM_001198536.1:c.277+1372_277+1373insCACTCTGG	NP_001185465.1:n.277+1372_277+1373insCACTCTGG
XM_017023236.2:c.278-149_278-148insCACTCTGG	XP_016878725.1:n.278-149_278-148insCACTCTGG
XR_001751903.1:n.467-149_467-148insCACTCTGG
NM_000243.3:c.278-149_278-148insCACTCTGG MANE Select	NP_000234.1:n.278-149_278-148insCACTCTGG
NM_001198536.2:c.277+1372_277+1373insCACTCTGG	NP_001185465.2:n.277+1372_277+1373insCACTCTGG