Canonical Allele Identifier: CA7860281

Gene: MEFV

Linked Data

• dbSNP Id: rs758852605
• ExAC: 16:3299806 CCT / C
• gnomAD v2: 16-3299806-CCT-C
• gnomAD v3: 16-3249806-CCT-C
• gnomAD v4: 16-3249806-CCT-C
• MyVariant Identifiers: chr16:g.3299807_3299808del (hg19) ; chr16:g.3249807_3249808del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3249807_3249808del , CM000678.2:g.3249807_3249808del	GRCh38
NC_000016.9:g.3299807_3299808del , CM000678.1:g.3299807_3299808del	GRCh37
NC_000016.8:g.3239808_3239809del	NCBI36
NG_007871.1:g.11820_11821del , LRG_190:g.11820_11821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.911-28_911-27del MANE Select	ENSP00000219596.1:n.911-28_911-27del
ENST00000219596.5:c.911-28_911-27del	ENSP00000219596.1:n.911-28_911-27del
ENST00000339854.8:c.371-28_371-27del	ENSP00000339639.4:n.371-28_371-27del
ENST00000536379.5:c.278-28_278-27del	ENSP00000445079.1:n.278-28_278-27del
ENST00000536980.5:c.278-28_278-27del	ENSP00000444178.1:n.278-28_278-27del
ENST00000537682.5:c.911-28_911-27del	ENSP00000438611.1:n.911-28_911-27del
ENST00000538326.5:c.911-28_911-27del	ENSP00000437486.1:n.911-28_911-27del
ENST00000539145.5:c.278-2562_278-2561del	ENSP00000444471.1:n.278-2562_278-2561del
ENST00000541159.5:c.278-28_278-27del	ENSP00000438711.1:n.278-28_278-27del
ENST00000542898.5:c.1004-28_1004-27del	ENSP00000444615.1:n.1004-28_1004-27del
ENST00000570511.5:c.911-2562_911-2561del	ENSP00000458312.1:n.911-2562_911-2561del
ENST00000572244.5:c.278-3261_278-3260del	ENSP00000461186.1:n.278-3261_278-3260del
ENST00000574583.5:c.278-2562_278-2561del	ENSP00000460269.1:n.278-2562_278-2561del
ENST00000576315.5:c.278-2562_278-2561del	ENSP00000460551.1:n.278-2562_278-2561del
ENST00000621655.1:c.278-28_278-27del	ENSP00000481436.1:n.278-28_278-27del
NM_000243.2:c.911-28_911-27del , LRG_190t1:c.911-28_911-27del	NP_000234.1:n.911-28_911-27del
NM_001198536.1:c.278-28_278-27del	NP_001185465.1:n.278-28_278-27del
XM_017023236.2:c.911-28_911-27del	XP_016878725.1:n.911-28_911-27del
XR_001751903.1:n.1100-28_1100-27del
NM_000243.3:c.911-28_911-27del MANE Select	NP_000234.1:n.911-28_911-27del
NM_001198536.2:c.278-28_278-27del	NP_001185465.2:n.278-28_278-27del