Canonical Allele Identifier: CA625314484

Gene: RAI1

Linked Data

• dbSNP Id: rs1567915827
• gnomAD v2: 17-17697096-GCA-G
• gnomAD v4: 17-17793782-GCA-G
• MyVariant Identifiers: chr17:g.17697097_17697098del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793783_17793784del , CM000679.2:g.17793783_17793784del	GRCh38
NC_000017.10:g.17697097_17697098del , CM000679.1:g.17697097_17697098del	GRCh37
NC_000017.9:g.17637822_17637823del	NCBI36
NG_007101.2:g.117311_117312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.835_836del MANE Select	ENSP00000323074.4:p.Gln279AlafsTer?
ENST00000640861.1:c.769_770del	ENSP00000491773.1:p.Gln257AlafsTer?
ENST00000353383.5:c.835_836del	ENSP00000323074.4:p.Gln279AlafsTer?
ENST00000395774.1:c.835_836del	ENSP00000379120.1:p.Gln279AlafsTer?
NM_030665.3:c.835_836del	NP_109590.3:p.Gln279AlafsTer?
XM_017024025.1:c.835_836del	XP_016879514.1:p.Gln279AlafsTer?
XM_017024026.1:c.835_836del	XP_016879515.1:p.Gln279AlafsTer?
XM_017024027.1:c.835_836del	XP_016879516.1:p.Gln279AlafsTer?
XM_017024028.2:c.835_836del	XP_016879517.1:p.Gln279AlafsTer?
NM_030665.4:c.835_836del MANE Select	NP_109590.3:p.Gln279AlafsTer?