Canonical Allele Identifier: CA625314490

Gene: RAI1

Linked Data

• gnomAD v2: 17-17697127-CAGCAGCA-C
• MyVariant Identifiers: chr17:g.17697128_17697134del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793817_17793823del , CM000679.2:g.17793817_17793823del	GRCh38
NC_000017.10:g.17697131_17697137del , CM000679.1:g.17697131_17697137del	GRCh37
NC_000017.9:g.17637856_17637862del	NCBI36
NG_007101.2:g.117345_117351del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.869_875del MANE Select	ENSP00000323074.4:p.Gln290ProfsTer?
ENST00000640861.1:c.803_809del	ENSP00000491773.1:p.Gln268ProfsTer?
ENST00000353383.5:c.869_875del	ENSP00000323074.4:p.Gln290ProfsTer?
ENST00000395774.1:c.869_875del	ENSP00000379120.1:p.Gln290ProfsTer?
NM_030665.3:c.869_875del	NP_109590.3:p.Gln290ProfsTer?
XM_017024025.1:c.869_875del	XP_016879514.1:p.Gln290ProfsTer?
XM_017024026.1:c.869_875del	XP_016879515.1:p.Gln290ProfsTer?
XM_017024027.1:c.869_875del	XP_016879516.1:p.Gln290ProfsTer?
XM_017024028.2:c.869_875del	XP_016879517.1:p.Gln290ProfsTer?
NM_030665.4:c.869_875del MANE Select	NP_109590.3:p.Gln290ProfsTer?