Canonical Allele Identifier: CA2202658893
Gene: MEFV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243897_3243899delinsGGA , CM000678.2:g.3243897_3243899delinsGGA GRCh38
NC_000016.9:g.3293897_3293899delinsGGA , CM000678.1:g.3293897_3293899delinsGGA GRCh37
NC_000016.8:g.3233898_3233900delinsGGA NCBI36
NG_007871.1:g.17729_17731delinsTCC , LRG_190:g.17729_17731delinsTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.881-7_881-5delinsTCC
ENST00000219596.6:c.1760-7_1760-5delinsTCC MANE Select ENSP00000219596.1:n.1760-7_1760-5delinsTCC
ENST00000219596.5:c.1760-7_1760-5delinsTCC ENSP00000219596.1:n.1760-7_1760-5delinsTCC
ENST00000339854.8:c.1220-7_1220-5delinsTCC ENSP00000339639.4:n.1220-7_1220-5delinsTCC
ENST00000536379.5:c.1127-7_1127-5delinsTCC ENSP00000445079.1:n.1127-7_1127-5delinsTCC
ENST00000536980.5:c.*36-7_*36-5delinsTCC ENSP00000444178.1:n.*36-7_*36-5delinsTCC
ENST00000537682.5:c.*36-7_*36-5delinsTCC ENSP00000438611.1:n.*36-7_*36-5delinsTCC
ENST00000538326.5:c.*385-7_*385-5delinsTCC ENSP00000437486.1:n.*385-7_*385-5delinsTCC
ENST00000539145.5:c.681-7_681-5delinsTCC ENSP00000444471.1:n.681-7_681-5delinsTCC
ENST00000541159.5:c.1295_1297delinsTCC ENSP00000438711.1:p.Leu432=
ENST00000542898.5:c.*36-7_*36-5delinsTCC ENSP00000444615.1:n.*36-7_*36-5delinsTCC
ENST00000570511.5:c.1165-7_1165-5delinsTCC ENSP00000458312.1:n.1165-7_1165-5delinsTCC
ENST00000572244.5:c.450-7_450-5delinsTCC ENSP00000461186.1:n.450-7_450-5delinsTCC
ENST00000574583.5:c.532-7_532-5delinsTCC ENSP00000460269.1:n.532-7_532-5delinsTCC
ENST00000576315.5:c.565-7_565-5delinsTCC ENSP00000460551.1:n.565-7_565-5delinsTCC
ENST00000621655.1:c.1290_1292delinsTCC ENSP00000481436.1:n.1290_1292delinsTCC
NM_000243.2:c.1760-7_1760-5delinsTCC , LRG_190t1:c.1760-7_1760-5delinsTCC NP_000234.1:n.1760-7_1760-5delinsTCC
NM_001198536.1:c.1295_1297delinsTCC NP_001185465.1:p.Leu432=
XM_017023236.2:c.1757-7_1757-5delinsTCC XP_016878725.1:n.1757-7_1757-5delinsTCC
XR_001751903.1:n.2067-7_2067-5delinsTCC
NM_000243.3:c.1760-7_1760-5delinsTCC MANE Select NP_000234.1:n.1760-7_1760-5delinsTCC
NM_001198536.2:c.1295_1297delinsTCC NP_001185465.2:p.Leu432=