Canonical Allele Identifier: CA2631332713

Gene: MEFV

Linked Data

• gnomAD v4: 16-3242859-ACCTGAGAGTGCCAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242862_3242875del , CM000678.2:g.3242862_3242875del	GRCh38
NC_000016.9:g.3292862_3292875del , CM000678.1:g.3292862_3292875del	GRCh37
NC_000016.8:g.3232863_3232876del	NCBI36
NG_007871.1:g.18755_18768del , LRG_190:g.18755_18768del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1735_1748del
ENST00000219596.6:c.*268_*281del MANE Select	ENSP00000219596.1:n.*268_*281del
ENST00000219596.5:c.*268_*281del	ENSP00000219596.1:n.*268_*281del
ENST00000339854.8:c.*268_*281del	ENSP00000339639.4:n.*268_*281del
ENST00000536980.5:c.*890_*903del	ENSP00000444178.1:n.*890_*903del
ENST00000537682.5:c.*890_*903del	ENSP00000438611.1:n.*890_*903del
ENST00000538326.5:c.*1239_*1252del	ENSP00000437486.1:n.*1239_*1252del
ENST00000542898.5:c.*890_*903del	ENSP00000444615.1:n.*890_*903del
NM_000243.2:c.*268_*281del , LRG_190t1:c.*268_*281del	NP_000234.1:n.*268_*281del
NM_001198536.1:c.*818_*831del	NP_001185465.1:n.*818_*831del
NM_000243.3:c.*268_*281del MANE Select	NP_000234.1:n.*268_*281del
NM_001198536.2:c.*818_*831del	NP_001185465.2:n.*818_*831del