Canonical Allele Identifier: CA2580083689

Gene: ARHGEF12

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.120481471_120481477del , CM000673.2:g.120481471_120481477del	GRCh38
NC_000011.9:g.120352180_120352186del , CM000673.1:g.120352180_120352186del	GRCh37
NC_000011.8:g.119857390_119857396del	NCBI36
NG_027960.1:g.149563_149569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397843.7:c.4449_4455del MANE Select	ENSP00000380942.2:p.Met1483IlefsTer26
ENST00000356641.7:c.4392_4398del	ENSP00000349056.3:p.Met1464IlefsTer26
ENST00000397843.6:c.4449_4455del	ENSP00000380942.2:p.Met1483IlefsTer26
ENST00000532993.5:c.4140_4146del	ENSP00000432984.1:p.Met1380IlefsTer26
NM_001198665.1:c.4392_4398del	NP_001185594.1:p.Met1464IlefsTer26
NM_001301084.1:c.4140_4146del	NP_001288013.1:p.Met1380IlefsTer26
NM_015313.2:c.4449_4455del	NP_056128.1:p.Met1483IlefsTer26
XM_005271478.3:c.4329_4335del	XP_005271535.1:p.Met1443IlefsTer26
XM_006718805.2:c.4374_4380del	XP_006718868.1:p.Met1458IlefsTer26
XM_011542720.1:c.4140_4146del	XP_011541022.1:p.Met1380IlefsTer26
XM_006718805.3:c.4374_4380del	XP_006718868.1:p.Met1458IlefsTer26
XM_011542720.2:c.4140_4146del	XP_011541022.1:p.Met1380IlefsTer26
XM_017017420.1:c.4272_4278del	XP_016872909.1:p.Met1424IlefsTer26
XM_017017421.1:c.4140_4146del	XP_016872910.1:p.Met1380IlefsTer26
XM_017017422.2:c.4020_4026del	XP_016872911.1:p.Met1340IlefsTer26
NM_015313.3:c.4449_4455del MANE Select	NP_056128.1:p.Met1483IlefsTer26
NM_001198665.2:c.4392_4398del	NP_001185594.1:p.Met1464IlefsTer26
NM_001301084.2:c.4140_4146del	NP_001288013.1:p.Met1380IlefsTer26