Canonical Allele Identifier: CA2573145535
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 1447765
ClinVar RCV Id: RCV001996906
dbSNP Id: rs2134792632
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644511_110644512delinsTT , CM000672.2:g.110644511_110644512delinsTT GRCh38
NC_000010.10:g.112404269_112404270delinsTT , CM000672.1:g.112404269_112404270delinsTT GRCh37
NC_000010.9:g.112394259_112394260delinsTT NCBI36
NG_021177.1:g.5115_5116delinsTT , LRG_382:g.5115_5116delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.57_58delinsTT MANE Select ENSP00000358532.3:p.Asp20Tyr
ENST00000369519.3:c.57_58delinsTT ENSP00000358532.3:p.Asp20Tyr
NM_001134363.2:c.57_58delinsTT NP_001127835.2:p.Asp20Tyr
XM_017016103.2:c.26+1071_26+1072delinsTT XP_016871592.1:n.26+1071_26+1072delinsTT
NM_001134363.3:c.57_58delinsTT MANE Select NP_001127835.2:p.Asp20Tyr
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