Canonical Allele Identifier: CA2695199265
Gene: ARHGAP31 HGNC NCBI

Linked Data

ClinVar Variation Id: 2631617
ClinVar RCV Id: RCV003397392

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119414371_119414372delinsTT , CM000665.2:g.119414371_119414372delinsTT GRCh38
NC_000003.11:g.119133218_119133219delinsTT , CM000665.1:g.119133218_119133219delinsTT GRCh37
NC_000003.10:g.120615908_120615909delinsTT NCBI36
NG_007665.2:g.124999_125000delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264245.9:c.2442_2443delinsTT MANE Select ENSP00000264245.4:p.Arg814_Thr815delinsSerSer
ENST00000264245.8:c.2442_2443delinsTT ENSP00000264245.4:p.Arg814_Thr815delinsSerSer
NM_020754.3:c.2442_2443delinsTT NP_065805.2:p.Arg814_Thr815delinsSerSer
XM_005247671.3:c.2349_2350delinsTT XP_005247728.1:p.Arg783_Thr784delinsSerSer
XM_006713714.2:c.2382_2383delinsTT XP_006713777.1:p.Arg794_Thr795delinsSerSer
XM_006713714.3:c.2382_2383delinsTT XP_006713777.1:p.Arg794_Thr795delinsSerSer
XM_017006955.1:c.1950_1951delinsTT XP_016862444.1:p.Arg650_Thr651delinsSerSer
NM_020754.4:c.2442_2443delinsTT MANE Select NP_065805.2:p.Arg814_Thr815delinsSerSer