Canonical Allele Identifier: CA213234514
Gene: RBM20 HGNC NCBI

Linked Data

dbSNP Id: rs868855645
MyVariant Identifiers: chr10:g.112540619_112540622del (hg19) chr10:g.110780861_110780864del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110780861_110780864del , CM000672.2:g.110780861_110780864del GRCh38
NC_000010.10:g.112540619_112540622del , CM000672.1:g.112540619_112540622del GRCh37
NC_000010.9:g.112530609_112530612del NCBI36
NG_021177.1:g.141465_141468del , LRG_382:g.141465_141468del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.252_255del MANE Select ENSP00000358532.3:p.Ser85LeufsTer18
ENST00000369519.3:c.252_255del ENSP00000358532.3:p.Ser85LeufsTer18
NM_001134363.2:c.252_255del NP_001127835.2:p.Ser85LeufsTer18
XM_011539697.1:c.-133_-130del XP_011537999.1:n.-133_-130del
XM_017016103.2:c.87_90del XP_016871592.1:p.Ser30LeufsTer18
XM_017016104.2:c.-133_-130del XP_016871593.1:n.-133_-130del
NM_001134363.3:c.252_255del MANE Select NP_001127835.2:p.Ser85LeufsTer18
Search 100 bp 5'
Search 100 bp 3'