Canonical Allele Identifier: CA625314491

Gene: RAI1

Linked Data

• dbSNP Id: rs1218816351
• gnomAD v2: 17-17697128-AGC-A
• MyVariant Identifiers: chr17:g.17697129_17697130del (hg19) ; chr17:g.17793815_17793816del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793815_17793816del , CM000679.2:g.17793815_17793816del	GRCh38
NC_000017.10:g.17697129_17697130del , CM000679.1:g.17697129_17697130del	GRCh37
NC_000017.9:g.17637854_17637855del	NCBI36
NG_007101.2:g.117343_117344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.867_868del MANE Select	ENSP00000323074.4:p.Gln290AlafsTer?
ENST00000640861.1:c.801_802del	ENSP00000491773.1:p.Gln268AlafsTer?
ENST00000353383.5:c.867_868del	ENSP00000323074.4:p.Gln290AlafsTer?
ENST00000395774.1:c.867_868del	ENSP00000379120.1:p.Gln290AlafsTer?
NM_030665.3:c.867_868del	NP_109590.3:p.Gln290AlafsTer?
XM_017024025.1:c.867_868del	XP_016879514.1:p.Gln290AlafsTer?
XM_017024026.1:c.867_868del	XP_016879515.1:p.Gln290AlafsTer?
XM_017024027.1:c.867_868del	XP_016879516.1:p.Gln290AlafsTer?
XM_017024028.2:c.867_868del	XP_016879517.1:p.Gln290AlafsTer?
NM_030665.4:c.867_868del MANE Select	NP_109590.3:p.Gln290AlafsTer?