Canonical Allele Identifier: CA2631334234

Gene: MEFV

Linked Data

• gnomAD v4: 16-3244457-TCCCAAGCCCATCTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244460_3244473del , CM000678.2:g.3244460_3244473del	GRCh38
NC_000016.9:g.3294460_3294473del , CM000678.1:g.3294460_3294473del	GRCh37
NC_000016.8:g.3234461_3234474del	NCBI36
NG_007871.1:g.17157_17170del , LRG_190:g.17157_17170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.847+2_847+15del
ENST00000219596.6:c.1726+2_1726+15del
ENST00000219596.5:c.1726+2_1726+15del
ENST00000339854.8:c.1186+2_1186+15del
ENST00000536379.5:c.1093+2_1093+15del
ENST00000536980.5:c.1093+2_1093+15del
ENST00000537682.5:c.1726+2_1726+15del
ENST00000538326.5:c.*351+2_*351+15del
ENST00000539145.5:c.647+2_647+15del
ENST00000541159.5:c.1093+2_1093+15del
ENST00000542898.5:c.1819+2_1819+15del
ENST00000570511.5:c.1165-579_1165-566del	ENSP00000458312.1:n.1165-579_1165-566del
ENST00000572244.5:c.416+2_416+15del
ENST00000574583.5:c.532-579_532-566del	ENSP00000460269.1:n.532-579_532-566del
ENST00000576315.5:c.532-185_532-172del	ENSP00000460551.1:n.532-185_532-172del
ENST00000621655.1:c.1093+2_1093+15del
NM_000243.2:c.1726+2_1726+15del , LRG_190t1:c.1726+2_1726+15del
NM_001198536.1:c.1093+2_1093+15del
XM_017023236.2:c.1723+2_1723+15del
XR_001751903.1:n.1915+2_1915+15del
NM_000243.3:c.1726+2_1726+15del
NM_001198536.2:c.1093+2_1093+15del