Canonical Allele Identifier: CA2636388233

Gene: RAI1

Linked Data

• gnomAD v4: 17-17793792-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793793del , CM000679.2:g.17793793del	GRCh38
NC_000017.10:g.17697107del , CM000679.1:g.17697107del	GRCh37
NC_000017.9:g.17637832del	NCBI36
NG_007101.2:g.117321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.845del MANE Select	ENSP00000323074.4:p.Gln282ArgfsTer?
ENST00000640861.1:c.779del	ENSP00000491773.1:p.Gln260ArgfsTer?
ENST00000353383.5:c.845del	ENSP00000323074.4:p.Gln282ArgfsTer?
ENST00000395774.1:c.845del	ENSP00000379120.1:p.Gln282ArgfsTer?
NM_030665.3:c.845del	NP_109590.3:p.Gln282ArgfsTer?
XM_017024025.1:c.845del	XP_016879514.1:p.Gln282ArgfsTer?
XM_017024026.1:c.845del	XP_016879515.1:p.Gln282ArgfsTer?
XM_017024027.1:c.845del	XP_016879516.1:p.Gln282ArgfsTer?
XM_017024028.2:c.845del	XP_016879517.1:p.Gln282ArgfsTer?
NM_030665.4:c.845del MANE Select	NP_109590.3:p.Gln282ArgfsTer?