Canonical Allele Identifier: CA775680360

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs1440100049
• MyVariant Identifiers: chr17:g.79826451_79826456del (hg19) ; chr17:g.81868575_81868580del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868577_81868582del , CM000679.2:g.81868577_81868582del	GRCh38
NC_000017.10:g.79826453_79826458del , CM000679.1:g.79826453_79826458del	GRCh37
NC_000017.9:g.77419742_77419747del	NCBI36
NG_034210.1:g.7827_7832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*296_*301del MANE Select	ENSP00000269321.7:n.*296_*301del
ENST00000269321.11:c.*296_*301del	ENSP00000269321.7:n.*296_*301del
ENST00000400721.8:c.*296_*301del	ENSP00000383556.4:n.*296_*301del
ENST00000541078.6:c.*296_*301del	ENSP00000441348.2:n.*296_*301del
ENST00000579121.5:c.507_512del	ENSP00000462960.1:p.Ile170_Ser171del
ENST00000580685.5:c.*296_*301del	ENSP00000464205.1:n.*296_*301del
ENST00000582520.1:n.46+5_46+10del
ENST00000584461.5:c.507_512del	ENSP00000463939.1:p.Ile170_Ser171del
NM_001185077.2:c.*296_*301del	NP_001172006.1:n.*296_*301del
NM_001185078.2:c.*296_*301del	NP_001172007.1:n.*296_*301del
NM_001301240.1:c.507_512del	NP_001288169.1:p.Ile170_Ser171del
NM_001301241.1:c.507_512del	NP_001288170.1:p.Ile170_Ser171del
NM_001301242.1:c.799_804del	NP_001288171.1:p.Tyr267_Leu268del
NM_001301243.1:c.*296_*301del	NP_001288172.1:n.*296_*301del
NM_004309.5:c.*296_*301del	NP_004300.1:n.*296_*301del
NR_125441.1:n.970_975del
XM_011523574.1:c.*296_*301del	XP_011521876.1:n.*296_*301del
NM_004309.6:c.*296_*301del MANE Select	NP_004300.1:n.*296_*301del
NM_001185077.3:c.*296_*301del	NP_001172006.1:n.*296_*301del
NM_001185078.3:c.*296_*301del	NP_001172007.1:n.*296_*301del
NM_001301240.2:c.507_512del	NP_001288169.1:p.Ile170_Ser171del
NM_001301241.2:c.507_512del	NP_001288170.1:p.Ile170_Ser171del
NM_001301242.2:c.799_804del	NP_001288171.1:p.Tyr267_Leu268del
NM_001301243.2:c.*296_*301del	NP_001288172.1:n.*296_*301del
NR_125441.2:n.901_906del