Canonical Allele Identifier: CA620713076

Gene: MEFV

Linked Data

• dbSNP Id: rs1482320376
• gnomAD v2: 16-3293830-AG-A
• gnomAD v3: 16-3243830-AG-A
• gnomAD v4: 16-3243830-AG-A
• MyVariant Identifiers: chr16:g.3293831del (hg19) ; chr16:g.3243831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243833del , CM000678.2:g.3243833del	GRCh38
NC_000016.9:g.3293833del , CM000678.1:g.3293833del	GRCh37
NC_000016.8:g.3233834del	NCBI36
NG_007871.1:g.17797del , LRG_190:g.17797del

Transcript Alleles

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