Canonical Allele Identifier: CA2640523186

Gene: ARHGDIA

Linked Data

• gnomAD v4: 17-81868873-G-GGCTCAGTCCTTCCAGTCCTTCTTGATGGTGAGATTCCACTCCCAGGACAGGTGGTCGGTCTTGTCGTCGTCTGTGAAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868875_81868953dup , CM000679.2:g.81868875_81868953dup	GRCh38
NC_000017.10:g.79826751_79826829dup , CM000679.1:g.79826751_79826829dup	GRCh37
NC_000017.9:g.77420040_77420118dup	NCBI36
NG_034210.1:g.7455_7533dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000269321.12:c.539_*2dup MANE Select	ENSP00000269321.7:n.539_*2dup
ENST00000269321.11:c.539_*2dup	ENSP00000269321.7:n.539_*2dup
ENST00000400721.8:c.416-9_*2dup
ENST00000541078.6:c.539_*2dup	ENSP00000441348.2:n.539_*2dup
ENST00000579121.5:c.502+37_502+115dup	ENSP00000462960.1:n.502+37_502+115dup
ENST00000580685.5:c.539_*2dup	ENSP00000464205.1:n.539_*2dup
ENST00000581876.5:c.314_*2dup	ENSP00000461956.1:n.314_*2dup
ENST00000582984.5:n.741_819dup
ENST00000583868.5:c.436-9_505dup
ENST00000584461.5:c.502+37_502+115dup	ENSP00000463939.1:n.502+37_502+115dup
NM_001185077.2:c.539_*2dup	NP_001172006.1:n.539_*2dup
NM_001185078.2:c.416-9_*2dup
NM_001301240.1:c.502+37_502+115dup	NP_001288169.1:n.502+37_502+115dup
NM_001301241.1:c.502+37_502+115dup	NP_001288170.1:n.502+37_502+115dup
NM_001301242.1:c.436-9_505dup
NM_001301243.1:c.674_*2dup	NP_001288172.1:n.674_*2dup
NM_004309.5:c.539_*2dup	NP_004300.1:n.539_*2dup
NR_125441.1:n.598_676dup
XM_011523574.1:c.674_*2dup	XP_011521876.1:n.674_*2dup
NM_004309.6:c.539_*2dup MANE Select	NP_004300.1:n.539_*2dup
NM_001185077.3:c.539_*2dup	NP_001172006.1:n.539_*2dup
NM_001185078.3:c.416-9_*2dup
NM_001301240.2:c.502+37_502+115dup	NP_001288169.1:n.502+37_502+115dup
NM_001301241.2:c.502+37_502+115dup	NP_001288170.1:n.502+37_502+115dup
NM_001301242.2:c.436-9_505dup
NM_001301243.2:c.674_*2dup	NP_001288172.1:n.674_*2dup
NR_125441.2:n.529_607dup