Canonical Allele Identifier: CA2202664601

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3254136_3254137delinsAG , CM000678.2:g.3254136_3254137delinsAG	GRCh38
NC_000016.9:g.3304136_3304137delinsAG , CM000678.1:g.3304136_3304137delinsAG	GRCh37
NC_000016.8:g.3244137_3244138delinsAG	NCBI36
NG_007871.1:g.7491_7492delinsCT , LRG_190:g.7491_7492delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.910+21_910+22delinsCT MANE Select	ENSP00000219596.1:n.910+21_910+22delinsCT
ENST00000219596.5:c.910+21_910+22delinsCT	ENSP00000219596.1:n.910+21_910+22delinsCT
ENST00000339854.8:c.278-2088_278-2087delinsCT	ENSP00000339639.4:n.278-2088_278-2087delinsCT
ENST00000536379.5:c.277+2174_277+2175delinsCT	ENSP00000445079.1:n.277+2174_277+2175delinsCT
ENST00000536980.5:c.277+2174_277+2175delinsCT	ENSP00000444178.1:n.277+2174_277+2175delinsCT
ENST00000537682.5:c.910+21_910+22delinsCT	ENSP00000438611.1:n.910+21_910+22delinsCT
ENST00000538326.5:c.910+21_910+22delinsCT	ENSP00000437486.1:n.910+21_910+22delinsCT
ENST00000539145.5:c.277+2174_277+2175delinsCT	ENSP00000444471.1:n.277+2174_277+2175delinsCT
ENST00000541159.5:c.277+2174_277+2175delinsCT	ENSP00000438711.1:n.277+2174_277+2175delinsCT
ENST00000542898.5:c.910+21_910+22delinsCT	ENSP00000444615.1:n.910+21_910+22delinsCT
ENST00000570511.5:c.910+21_910+22delinsCT	ENSP00000458312.1:n.910+21_910+22delinsCT
ENST00000572244.5:c.277+2174_277+2175delinsCT	ENSP00000461186.1:n.277+2174_277+2175delinsCT
ENST00000574583.5:c.277+2174_277+2175delinsCT	ENSP00000460269.1:n.277+2174_277+2175delinsCT
ENST00000576315.5:c.277+2174_277+2175delinsCT	ENSP00000460551.1:n.277+2174_277+2175delinsCT
ENST00000621655.1:c.277+2174_277+2175delinsCT	ENSP00000481436.1:n.277+2174_277+2175delinsCT
NM_000243.2:c.910+21_910+22delinsCT , LRG_190t1:c.910+21_910+22delinsCT	NP_000234.1:n.910+21_910+22delinsCT
NM_001198536.1:c.277+2174_277+2175delinsCT	NP_001185465.1:n.277+2174_277+2175delinsCT
XM_017023236.2:c.910+21_910+22delinsCT	XP_016878725.1:n.910+21_910+22delinsCT
XR_001751903.1:n.1099+21_1099+22delinsCT
NM_000243.3:c.910+21_910+22delinsCT MANE Select	NP_000234.1:n.910+21_910+22delinsCT
NM_001198536.2:c.277+2174_277+2175delinsCT	NP_001185465.2:n.277+2174_277+2175delinsCT