Canonical Allele Identifier: CA2575889665

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244075_3244092del , CM000678.2:g.3244075_3244092del	GRCh38
NC_000016.9:g.3294075_3294092del , CM000678.1:g.3294075_3294092del	GRCh37
NC_000016.8:g.3234076_3234093del	NCBI36
NG_007871.1:g.17536_17553del , LRG_190:g.17536_17553del

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.880+162_880+179del
ENST00000219596.6:c.1759+162_1759+179del MANE Select	ENSP00000219596.1:n.1759+162_1759+179del
ENST00000219596.5:c.1759+162_1759+179del	ENSP00000219596.1:n.1759+162_1759+179del
ENST00000339854.8:c.1219+162_1219+179del	ENSP00000339639.4:n.1219+162_1219+179del
ENST00000536379.5:c.1126+162_1126+179del	ENSP00000445079.1:n.1126+162_1126+179del
ENST00000536980.5:c.*35+44_*35+61del	ENSP00000444178.1:n.*35+44_*35+61del
ENST00000537682.5:c.*35+44_*35+61del	ENSP00000438611.1:n.*35+44_*35+61del
ENST00000538326.5:c.*384+162_*384+179del	ENSP00000437486.1:n.*384+162_*384+179del
ENST00000539145.5:c.680+162_680+179del	ENSP00000444471.1:n.680+162_680+179del
ENST00000541159.5:c.1127-25_1127-8del	ENSP00000438711.1:n.1127-25_1127-8del
ENST00000542898.5:c.*35+44_*35+61del	ENSP00000444615.1:n.*35+44_*35+61del
ENST00000570511.5:c.1165-200_1165-183del	ENSP00000458312.1:n.1165-200_1165-183del
ENST00000572244.5:c.449+162_449+179del	ENSP00000461186.1:n.449+162_449+179del
ENST00000574583.5:c.532-200_532-183del	ENSP00000460269.1:n.532-200_532-183del
ENST00000576315.5:c.564+162_564+179del	ENSP00000460551.1:n.564+162_564+179del
ENST00000621655.1:c.1127-25_1127-8del	ENSP00000481436.1:n.1127-25_1127-8del
NM_000243.2:c.1759+162_1759+179del , LRG_190t1:c.1759+162_1759+179del	NP_000234.1:n.1759+162_1759+179del
NM_001198536.1:c.1127-25_1127-8del	NP_001185465.1:n.1127-25_1127-8del
XM_017023236.2:c.1756+162_1756+179del	XP_016878725.1:n.1756+162_1756+179del
XR_001751903.1:n.2066+44_2066+61del
NM_000243.3:c.1759+162_1759+179del MANE Select	NP_000234.1:n.1759+162_1759+179del
NM_001198536.2:c.1127-25_1127-8del	NP_001185465.2:n.1127-25_1127-8del