Canonical Allele Identifier: CA628024053

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs1448323841
• gnomAD v2: 17-79827114-TGCAGGACCCGAA-T
• gnomAD v4: 17-81869238-TGCAGGACCCGAA-T
• MyVariant Identifiers: chr17:g.79827115_79827126del (hg19) ; chr17:g.81869239_81869250del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81869241_81869252del , CM000679.2:g.81869241_81869252del	GRCh38
NC_000017.10:g.79827117_79827128del , CM000679.1:g.79827117_79827128del	GRCh37
NC_000017.9:g.77420406_77420417del	NCBI36
NG_034210.1:g.7157_7168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.352-14_352-3del MANE Select	ENSP00000269321.7:n.352-14_352-3del
ENST00000269321.11:c.352-14_352-3del	ENSP00000269321.7:n.352-14_352-3del
ENST00000400721.8:c.352-14_352-3del	ENSP00000383556.4:n.352-14_352-3del
ENST00000541078.6:c.352-14_352-3del	ENSP00000441348.2:n.352-14_352-3del
ENST00000578351.1:c.275-14_275-3del	ENSP00000462323.1:n.275-14_275-3del
ENST00000579121.5:c.352-14_352-3del	ENSP00000462960.1:n.352-14_352-3del
ENST00000580033.5:c.275-14_275-3del	ENSP00000463530.1:n.275-14_275-3del
ENST00000580685.5:c.352-14_352-3del	ENSP00000464205.1:n.352-14_352-3del
ENST00000581876.5:c.191-175_191-164del	ENSP00000461956.1:n.191-175_191-164del
ENST00000582984.5:n.554-14_554-3del
ENST00000583111.5:n.490_501del
ENST00000583791.1:n.202_213del
ENST00000583868.5:c.352-14_352-3del	ENSP00000462209.1:n.352-14_352-3del
ENST00000584461.5:c.352-14_352-3del	ENSP00000463939.1:n.352-14_352-3del
NM_001185077.2:c.352-14_352-3del	NP_001172006.1:n.352-14_352-3del
NM_001185078.2:c.352-14_352-3del	NP_001172007.1:n.352-14_352-3del
NM_001301240.1:c.352-14_352-3del	NP_001288169.1:n.352-14_352-3del
NM_001301241.1:c.352-14_352-3del	NP_001288170.1:n.352-14_352-3del
NM_001301242.1:c.352-14_352-3del	NP_001288171.1:n.352-14_352-3del
NM_001301243.1:c.487-14_487-3del	NP_001288172.1:n.487-14_487-3del
NM_004309.5:c.352-14_352-3del	NP_004300.1:n.352-14_352-3del
NR_125441.1:n.411-14_411-3del
XM_011523574.1:c.487-14_487-3del	XP_011521876.1:n.487-14_487-3del
NM_004309.6:c.352-14_352-3del MANE Select	NP_004300.1:n.352-14_352-3del
NM_001185077.3:c.352-14_352-3del	NP_001172006.1:n.352-14_352-3del
NM_001185078.3:c.352-14_352-3del	NP_001172007.1:n.352-14_352-3del
NM_001301240.2:c.352-14_352-3del	NP_001288169.1:n.352-14_352-3del
NM_001301241.2:c.352-14_352-3del	NP_001288170.1:n.352-14_352-3del
NM_001301242.2:c.352-14_352-3del	NP_001288171.1:n.352-14_352-3del
NM_001301243.2:c.487-14_487-3del	NP_001288172.1:n.487-14_487-3del
NR_125441.2:n.342-14_342-3del