Canonical Allele Identifier: CA10654257
Gene: ARHGEF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 367940
ClinVar RCV Id: RCV000364644
dbSNP Id: rs1057515778

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136667917_136667920del , CM000685.2:g.136667917_136667920del GRCh38
NC_000023.10:g.135750076_135750079del , CM000685.1:g.135750076_135750079del GRCh37
NC_000023.9:g.135577742_135577745del NCBI36
NG_008873.1:g.118437_118440del

Transcript Alleles

HGVS Amino-acid Change
ENST00000250617.7:c.*121_*124del MANE Select ENSP00000250617.6:n.*121_*124del
ENST00000250617.6:c.*121_*124del ENSP00000250617.6:n.*121_*124del
ENST00000370620.5:c.*121_*124del ENSP00000359654.1:n.*121_*124del
ENST00000370622.5:c.*121_*124del ENSP00000359656.1:n.*121_*124del
NM_001306177.1:c.*121_*124del NP_001293106.1:n.*121_*124del
NM_004840.2:c.*121_*124del NP_004831.1:n.*121_*124del
XM_005262499.2:c.*121_*124del XP_005262556.1:n.*121_*124del
XM_011531412.1:c.*121_*124del XP_011529714.1:n.*121_*124del
XM_011531413.1:c.*121_*124del XP_011529715.1:n.*121_*124del
XM_011531414.1:c.*121_*124del XP_011529716.1:n.*121_*124del
XM_011531415.1:c.*121_*124del XP_011529717.1:n.*121_*124del
XM_011531416.1:c.*121_*124del XP_011529718.1:n.*121_*124del
XM_011531417.1:c.*121_*124del XP_011529719.1:n.*121_*124del
XM_005262499.3:c.*121_*124del XP_005262556.1:n.*121_*124del
XM_011531412.3:c.*121_*124del XP_011529714.1:n.*121_*124del
XM_011531413.2:c.*121_*124del XP_011529715.1:n.*121_*124del
XM_011531414.2:c.*121_*124del XP_011529716.1:n.*121_*124del
XM_011531415.3:c.*121_*124del XP_011529717.1:n.*121_*124del
XM_011531416.3:c.*121_*124del XP_011529718.1:n.*121_*124del
XM_017029975.2:c.*121_*124del XP_016885464.1:n.*121_*124del
NM_004840.3:c.*121_*124del MANE Select NP_004831.1:n.*121_*124del
NM_001306177.2:c.*121_*124del NP_001293106.1:n.*121_*124del