Canonical Allele Identifier: CA2636388222
Gene: RAI1 HGNC NCBI

Linked Data

gnomAD v4: 17-17793466-TCCAGCAGCCACCGCCGCC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793476_17793493del , CM000679.2:g.17793476_17793493del GRCh38
NC_000017.10:g.17696790_17696807del , CM000679.1:g.17696790_17696807del GRCh37
NC_000017.9:g.17637515_17637532del NCBI36
NG_007101.2:g.117004_117021del

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.528_545del MANE Select ENSP00000323074.4:p.Pro177_Pro182del
ENST00000640861.1:c.528_545del ENSP00000491773.1:p.Pro177_Pro182del
ENST00000353383.5:c.528_545del ENSP00000323074.4:p.Pro177_Pro182del
ENST00000395774.1:c.528_545del ENSP00000379120.1:p.Pro177_Pro182del
NM_030665.3:c.528_545del NP_109590.3:p.Pro177_Pro182del
XM_017024025.1:c.528_545del XP_016879514.1:p.Pro177_Pro182del
XM_017024026.1:c.528_545del XP_016879515.1:p.Pro177_Pro182del
XM_017024027.1:c.528_545del XP_016879516.1:p.Pro177_Pro182del
XM_017024028.2:c.528_545del XP_016879517.1:p.Pro177_Pro182del
NM_030665.4:c.528_545del MANE Select NP_109590.3:p.Pro177_Pro182del
Search 100 bp 5'
Search 100 bp 3'