Canonical Allele Identifier: CA2631332761

Gene: MEFV

Linked Data

• gnomAD v4: 16-3242872-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242874_3242875del , CM000678.2:g.3242874_3242875del	GRCh38
NC_000016.9:g.3292874_3292875del , CM000678.1:g.3292874_3292875del	GRCh37
NC_000016.8:g.3232875_3232876del	NCBI36
NG_007871.1:g.18754_18755del , LRG_190:g.18754_18755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1734_1735del
ENST00000219596.6:c.*267_*268del MANE Select	ENSP00000219596.1:n.*267_*268del
ENST00000219596.5:c.*267_*268del	ENSP00000219596.1:n.*267_*268del
ENST00000339854.8:c.*267_*268del	ENSP00000339639.4:n.*267_*268del
ENST00000536980.5:c.*889_*890del	ENSP00000444178.1:n.*889_*890del
ENST00000537682.5:c.*889_*890del	ENSP00000438611.1:n.*889_*890del
ENST00000538326.5:c.*1238_*1239del	ENSP00000437486.1:n.*1238_*1239del
ENST00000542898.5:c.*889_*890del	ENSP00000444615.1:n.*889_*890del
NM_000243.2:c.*267_*268del , LRG_190t1:c.*267_*268del	NP_000234.1:n.*267_*268del
NM_001198536.1:c.*817_*818del	NP_001185465.1:n.*817_*818del
NM_000243.3:c.*267_*268del MANE Select	NP_000234.1:n.*267_*268del
NM_001198536.2:c.*817_*818del	NP_001185465.2:n.*817_*818del