Canonical Allele Identifier: CA545960933

Gene: ARHGAP31

Linked Data

• dbSNP Id: rs1212886422
• gnomAD v2: 3-119132721-A-AATGCCCTGATCTGGCCT
• gnomAD v4: 3-119413874-A-AATGCCCTGATCTGGCCT
• MyVariant Identifiers: chr3:g.119132721_119132722insATGCCCTGATCTGGCCT (hg19) ; chr3:g.119413874_119413875insATGCCCTGATCTGGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119413875_119413891dup , CM000665.2:g.119413875_119413891dup	GRCh38
NC_000003.11:g.119132722_119132738dup , CM000665.1:g.119132722_119132738dup	GRCh37
NC_000003.10:g.120615412_120615428dup	NCBI36
NG_007665.2:g.124503_124519dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264245.9:c.1946_1962dup MANE Select	ENSP00000264245.4:p.Glu655MetfsTer3
ENST00000264245.8:c.1946_1962dup	ENSP00000264245.4:p.Glu655MetfsTer3
NM_020754.3:c.1946_1962dup	NP_065805.2:p.Glu655MetfsTer3
XM_005247671.3:c.1853_1869dup	XP_005247728.1:p.Glu624MetfsTer3
XM_006713714.2:c.1886_1902dup	XP_006713777.1:p.Glu635MetfsTer3
XM_006713714.3:c.1886_1902dup	XP_006713777.1:p.Glu635MetfsTer3
XM_017006955.1:c.1454_1470dup	XP_016862444.1:p.Glu491MetfsTer3
NM_020754.4:c.1946_1962dup MANE Select	NP_065805.2:p.Glu655MetfsTer3