Canonical Allele Identifier: CA625314492

Gene: RAI1

Linked Data

• dbSNP Id: rs1302257874
• gnomAD v2: 17-17697129-GCAGCAA-G
• gnomAD v4: 17-17793815-GCAGCAA-G
• MyVariant Identifiers: chr17:g.17697130_17697135del (hg19) ; chr17:g.17793816_17793821del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793816_17793821del , CM000679.2:g.17793816_17793821del	GRCh38
NC_000017.10:g.17697130_17697135del , CM000679.1:g.17697130_17697135del	GRCh37
NC_000017.9:g.17637855_17637860del	NCBI36
NG_007101.2:g.117344_117349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.868_873del MANE Select	ENSP00000323074.4:p.Gln290_Gln291del
ENST00000640861.1:c.802_807del	ENSP00000491773.1:p.Gln268_Gln269del
ENST00000353383.5:c.868_873del	ENSP00000323074.4:p.Gln290_Gln291del
ENST00000395774.1:c.868_873del	ENSP00000379120.1:p.Gln290_Gln291del
NM_030665.3:c.868_873del	NP_109590.3:p.Gln290_Gln291del
XM_017024025.1:c.868_873del	XP_016879514.1:p.Gln290_Gln291del
XM_017024026.1:c.868_873del	XP_016879515.1:p.Gln290_Gln291del
XM_017024027.1:c.868_873del	XP_016879516.1:p.Gln290_Gln291del
XM_017024028.2:c.868_873del	XP_016879517.1:p.Gln290_Gln291del
NM_030665.4:c.868_873del MANE Select	NP_109590.3:p.Gln290_Gln291del