Canonical Allele Identifier: CA2202658855

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243830_3243831delinsAG , CM000678.2:g.3243830_3243831delinsAG	GRCh38
NC_000016.9:g.3293830_3293831delinsAG , CM000678.1:g.3293830_3293831delinsAG	GRCh37
NC_000016.8:g.3233831_3233832delinsAG	NCBI36
NG_007871.1:g.17797_17798delinsCT , LRG_190:g.17797_17798delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.913+29_913+30delinsCT
ENST00000219596.6:c.1792+29_1792+30delinsCT MANE Select	ENSP00000219596.1:n.1792+29_1792+30delinsCT
ENST00000219596.5:c.1792+29_1792+30delinsCT	ENSP00000219596.1:n.1792+29_1792+30delinsCT
ENST00000339854.8:c.1252+29_1252+30delinsCT	ENSP00000339639.4:n.1252+29_1252+30delinsCT
ENST00000536379.5:c.1159+29_1159+30delinsCT	ENSP00000445079.1:n.1159+29_1159+30delinsCT
ENST00000536980.5:c.*68+29_*68+30delinsCT	ENSP00000444178.1:n.*68+29_*68+30delinsCT
ENST00000537682.5:c.*68+29_*68+30delinsCT	ENSP00000438611.1:n.*68+29_*68+30delinsCT
ENST00000538326.5:c.*417+29_*417+30delinsCT	ENSP00000437486.1:n.*417+29_*417+30delinsCT
ENST00000539145.5:c.713+29_713+30delinsCT	ENSP00000444471.1:n.713+29_713+30delinsCT
ENST00000541159.5:c.1334+29_1334+30delinsCT	ENSP00000438711.1:n.1334+29_1334+30delinsCT
ENST00000542898.5:c.*68+29_*68+30delinsCT	ENSP00000444615.1:n.*68+29_*68+30delinsCT
ENST00000570511.5:c.1197+29_1197+30delinsCT	ENSP00000458312.1:n.1197+29_1197+30delinsCT
ENST00000572244.5:c.482+29_482+30delinsCT	ENSP00000461186.1:n.482+29_482+30delinsCT
ENST00000574583.5:c.564+29_564+30delinsCT	ENSP00000460269.1:n.564+29_564+30delinsCT
ENST00000576315.5:c.597+29_597+30delinsCT	ENSP00000460551.1:n.597+29_597+30delinsCT
ENST00000621655.1:c.1329+29_1329+30delinsCT	ENSP00000481436.1:n.1329+29_1329+30delinsCT
NM_000243.2:c.1792+29_1792+30delinsCT , LRG_190t1:c.1792+29_1792+30delinsCT	NP_000234.1:n.1792+29_1792+30delinsCT
NM_001198536.1:c.1334+29_1334+30delinsCT	NP_001185465.1:n.1334+29_1334+30delinsCT
XM_017023236.2:c.1789+29_1789+30delinsCT	XP_016878725.1:n.1789+29_1789+30delinsCT
XR_001751903.1:n.2099+29_2099+30delinsCT
NM_000243.3:c.1792+29_1792+30delinsCT MANE Select	NP_000234.1:n.1792+29_1792+30delinsCT
NM_001198536.2:c.1334+29_1334+30delinsCT	NP_001185465.2:n.1334+29_1334+30delinsCT