Canonical Allele Identifier: CA2575889695

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244578_3244579del , CM000678.2:g.3244578_3244579del	GRCh38
NC_000016.9:g.3294578_3294579del , CM000678.1:g.3294578_3294579del	GRCh37
NC_000016.8:g.3234579_3234580del	NCBI36
NG_007871.1:g.17049_17050del , LRG_190:g.17049_17050del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.741_742del
ENST00000219596.6:c.1620_1621del MANE Select	ENSP00000219596.1:p.Val541AlafsTer4
ENST00000219596.5:c.1620_1621del	ENSP00000219596.1:p.Val541AlafsTer4
ENST00000339854.8:c.1080_1081del	ENSP00000339639.4:p.Val361AlafsTer4
ENST00000536379.5:c.987_988del	ENSP00000445079.1:p.Val330AlafsTer4
ENST00000536980.5:c.987_988del	ENSP00000444178.1:p.Val330AlafsTer4
ENST00000537682.5:c.1620_1621del	ENSP00000438611.1:p.Val541AlafsTer4
ENST00000538326.5:c.*245_*246del	ENSP00000437486.1:n.*245_*246del
ENST00000539145.5:c.541_542del	ENSP00000444471.1:n.541_542del
ENST00000541159.5:c.987_988del	ENSP00000438711.1:p.Val330AlafsTer4
ENST00000542898.5:c.1713_1714del	ENSP00000444615.1:p.Val572AlafsTer4
ENST00000570511.5:c.1165-687_1165-686del	ENSP00000458312.1:n.1165-687_1165-686del
ENST00000572244.5:c.310_311del	ENSP00000461186.1:n.310_311del
ENST00000574583.5:c.532-687_532-686del	ENSP00000460269.1:n.532-687_532-686del
ENST00000576315.5:c.532-293_532-292del	ENSP00000460551.1:n.532-293_532-292del
ENST00000621655.1:c.987_988del	ENSP00000481436.1:p.Val330AlafsTer4
NM_000243.2:c.1620_1621del , LRG_190t1:c.1620_1621del	NP_000234.1:p.Val541AlafsTer4
NM_001198536.1:c.987_988del	NP_001185465.1:p.Val330AlafsTer4
XM_017023236.2:c.1617_1618del	XP_016878725.1:p.Val540AlafsTer4
XR_001751903.1:n.1809_1810del
NM_000243.3:c.1620_1621del MANE Select	NP_000234.1:p.Val541AlafsTer4
NM_001198536.2:c.987_988del	NP_001185465.2:p.Val330AlafsTer4