Canonical Allele Identifier: CA545960947

Gene: ARHGAP31

Linked Data

• dbSNP Id: rs1259823851
• gnomAD v2: 3-119134041-C-CA
• MyVariant Identifiers: chr3:g.119134041_119134042insA (hg19) ; chr3:g.119415194_119415195insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119415195dup , CM000665.2:g.119415195dup	GRCh38
NC_000003.11:g.119134042dup , CM000665.1:g.119134042dup	GRCh37
NC_000003.10:g.120616732dup	NCBI36
NG_007665.2:g.125823dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264245.9:c.3266dup MANE Select	ENSP00000264245.4:p.Leu1090AlafsTer28
ENST00000264245.8:c.3266dup	ENSP00000264245.4:p.Leu1090AlafsTer28
NM_020754.3:c.3266dup	NP_065805.2:p.Leu1090AlafsTer28
XM_005247671.3:c.3173dup	XP_005247728.1:p.Leu1059AlafsTer28
XM_006713714.2:c.3206dup	XP_006713777.1:p.Leu1070AlafsTer28
XM_006713714.3:c.3206dup	XP_006713777.1:p.Leu1070AlafsTer28
XM_017006955.1:c.2774dup	XP_016862444.1:p.Leu926AlafsTer28
NM_020754.4:c.3266dup MANE Select	NP_065805.2:p.Leu1090AlafsTer28