Canonical Allele Identifier: CA659824936
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 946836
ClinVar RCV Id: RCV001217783
dbSNP Id: rs1443137430
MyVariant Identifiers: chr10:g.112572497del (hg19) chr10:g.110812739del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812740del , CM000672.2:g.110812740del GRCh38
NC_000010.10:g.112572498del , CM000672.1:g.112572498del GRCh37
NC_000010.9:g.112562488del NCBI36
NG_021177.1:g.173344del , LRG_382:g.173344del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2343del MANE Select ENSP00000358532.3:p.Arg781SerfsTer?
ENST00000369519.3:c.2343del ENSP00000358532.3:p.Arg781SerfsTer?
NM_001134363.2:c.2343del NP_001127835.2:p.Arg781SerfsTer?
XM_011539697.1:c.1959del XP_011537999.1:p.Arg653SerfsTer?
XM_017016103.2:c.2178del XP_016871592.1:p.Arg726SerfsTer?
XM_017016104.2:c.1959del XP_016871593.1:p.Arg653SerfsTer?
NM_001134363.3:c.2343del MANE Select NP_001127835.2:p.Arg781SerfsTer?
Search 100 bp 5'
Search 100 bp 3'