Canonical Allele Identifier: CA2631332944

Gene: MEFV

Linked Data

• gnomAD v4: 16-3242907-TTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242913_3242915del , CM000678.2:g.3242913_3242915del	GRCh38
NC_000016.9:g.3292913_3292915del , CM000678.1:g.3292913_3292915del	GRCh37
NC_000016.8:g.3232914_3232916del	NCBI36
NG_007871.1:g.18718_18720del , LRG_190:g.18718_18720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1698_1700del
ENST00000219596.6:c.*231_*233del MANE Select	ENSP00000219596.1:n.*231_*233del
ENST00000219596.5:c.*231_*233del	ENSP00000219596.1:n.*231_*233del
ENST00000339854.8:c.*231_*233del	ENSP00000339639.4:n.*231_*233del
ENST00000536980.5:c.*853_*855del	ENSP00000444178.1:n.*853_*855del
ENST00000537682.5:c.*853_*855del	ENSP00000438611.1:n.*853_*855del
ENST00000538326.5:c.*1202_*1204del	ENSP00000437486.1:n.*1202_*1204del
ENST00000542898.5:c.*853_*855del	ENSP00000444615.1:n.*853_*855del
NM_000243.2:c.*231_*233del , LRG_190t1:c.*231_*233del	NP_000234.1:n.*231_*233del
NM_001198536.1:c.*781_*783del	NP_001185465.1:n.*781_*783del
NM_000243.3:c.*231_*233del MANE Select	NP_000234.1:n.*231_*233del
NM_001198536.2:c.*781_*783del	NP_001185465.2:n.*781_*783del