Canonical Allele Identifier: CA2631333139

Gene: MEFV

Linked Data

• gnomAD v4: 16-3242988-TGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242991_3243069del , CM000678.2:g.3242991_3243069del	GRCh38
NC_000016.9:g.3292991_3293069del , CM000678.1:g.3292991_3293069del	GRCh37
NC_000016.8:g.3232992_3233070del	NCBI36
NG_007871.1:g.18561_18639del , LRG_190:g.18561_18639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1541_1619del
ENST00000219596.6:c.*74_*152del MANE Select	ENSP00000219596.1:n.*74_*152del
ENST00000219596.5:c.*74_*152del	ENSP00000219596.1:n.*74_*152del
ENST00000339854.8:c.*74_*152del	ENSP00000339639.4:n.*74_*152del
ENST00000536980.5:c.*696_*774del	ENSP00000444178.1:n.*696_*774del
ENST00000537682.5:c.*696_*774del	ENSP00000438611.1:n.*696_*774del
ENST00000538326.5:c.*1045_*1123del	ENSP00000437486.1:n.*1045_*1123del
ENST00000542898.5:c.*696_*774del	ENSP00000444615.1:n.*696_*774del
NM_000243.2:c.*74_*152del , LRG_190t1:c.*74_*152del	NP_000234.1:n.*74_*152del
NM_001198536.1:c.*624_*702del	NP_001185465.1:n.*624_*702del
NM_000243.3:c.*74_*152del MANE Select	NP_000234.1:n.*74_*152del
NM_001198536.2:c.*624_*702del	NP_001185465.2:n.*624_*702del