Canonical Allele Identifier: CA973874994

Gene: MEFV

Linked Data

• dbSNP Id: rs1958876521
• gnomAD v3: 16-3242842-ATCT-A
• gnomAD v4: 16-3242842-ATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242846_3242848del , CM000678.2:g.3242846_3242848del	GRCh38
NC_000016.9:g.3292846_3292848del , CM000678.1:g.3292846_3292848del	GRCh37
NC_000016.8:g.3232847_3232849del	NCBI36
NG_007871.1:g.18783_18785del , LRG_190:g.18783_18785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1763_1765del
ENST00000219596.6:c.*296_*298del MANE Select	ENSP00000219596.1:n.*296_*298del
ENST00000219596.5:c.*296_*298del	ENSP00000219596.1:n.*296_*298del
ENST00000339854.8:c.*296_*298del	ENSP00000339639.4:n.*296_*298del
ENST00000536980.5:c.*918_*920del	ENSP00000444178.1:n.*918_*920del
ENST00000537682.5:c.*918_*920del	ENSP00000438611.1:n.*918_*920del
ENST00000538326.5:c.*1267_*1269del	ENSP00000437486.1:n.*1267_*1269del
ENST00000542898.5:c.*918_*920del	ENSP00000444615.1:n.*918_*920del
NM_000243.2:c.*296_*298del , LRG_190t1:c.*296_*298del	NP_000234.1:n.*296_*298del
NM_001198536.1:c.*846_*848del	NP_001185465.1:n.*846_*848del
NM_000243.3:c.*296_*298del MANE Select	NP_000234.1:n.*296_*298del
NM_001198536.2:c.*846_*848del	NP_001185465.2:n.*846_*848del