Canonical Allele Identifier: CA2631332752

Gene: MEFV

Linked Data

• gnomAD v4: 16-3242869-GCCACCCACCAGGGGCGGATTATGCAACGACTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242871_3242902del , CM000678.2:g.3242871_3242902del	GRCh38
NC_000016.9:g.3292871_3292902del , CM000678.1:g.3292871_3292902del	GRCh37
NC_000016.8:g.3232872_3232903del	NCBI36
NG_007871.1:g.18727_18758del , LRG_190:g.18727_18758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1707_1738del
ENST00000219596.6:c.*240_*271del MANE Select	ENSP00000219596.1:n.*240_*271del
ENST00000219596.5:c.*240_*271del	ENSP00000219596.1:n.*240_*271del
ENST00000339854.8:c.*240_*271del	ENSP00000339639.4:n.*240_*271del
ENST00000536980.5:c.*862_*893del	ENSP00000444178.1:n.*862_*893del
ENST00000537682.5:c.*862_*893del	ENSP00000438611.1:n.*862_*893del
ENST00000538326.5:c.*1211_*1242del	ENSP00000437486.1:n.*1211_*1242del
ENST00000542898.5:c.*862_*893del	ENSP00000444615.1:n.*862_*893del
NM_000243.2:c.*240_*271del , LRG_190t1:c.*240_*271del	NP_000234.1:n.*240_*271del
NM_001198536.1:c.*790_*821del	NP_001185465.1:n.*790_*821del
NM_000243.3:c.*240_*271del MANE Select	NP_000234.1:n.*240_*271del
NM_001198536.2:c.*790_*821del	NP_001185465.2:n.*790_*821del