Canonical Allele Identifier: CA2631333037

Gene: MEFV

Linked Data

• gnomAD v4: 16-3242931-GTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242935_3242937del , CM000678.2:g.3242935_3242937del	GRCh38
NC_000016.9:g.3292935_3292937del , CM000678.1:g.3292935_3292937del	GRCh37
NC_000016.8:g.3232936_3232938del	NCBI36
NG_007871.1:g.18694_18696del , LRG_190:g.18694_18696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1674_1676del
ENST00000219596.6:c.*207_*209del MANE Select	ENSP00000219596.1:n.*207_*209del
ENST00000219596.5:c.*207_*209del	ENSP00000219596.1:n.*207_*209del
ENST00000339854.8:c.*207_*209del	ENSP00000339639.4:n.*207_*209del
ENST00000536980.5:c.*829_*831del	ENSP00000444178.1:n.*829_*831del
ENST00000537682.5:c.*829_*831del	ENSP00000438611.1:n.*829_*831del
ENST00000538326.5:c.*1178_*1180del	ENSP00000437486.1:n.*1178_*1180del
ENST00000542898.5:c.*829_*831del	ENSP00000444615.1:n.*829_*831del
NM_000243.2:c.*207_*209del , LRG_190t1:c.*207_*209del	NP_000234.1:n.*207_*209del
NM_001198536.1:c.*757_*759del	NP_001185465.1:n.*757_*759del
NM_000243.3:c.*207_*209del MANE Select	NP_000234.1:n.*207_*209del
NM_001198536.2:c.*757_*759del	NP_001185465.2:n.*757_*759del