Canonical Allele Identifier: CA2697558788
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 2691236
ClinVar RCV Id: RCV003487256
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812450_110812453del , CM000672.2:g.110812450_110812453del GRCh38
NC_000010.10:g.112572208_112572211del , CM000672.1:g.112572208_112572211del GRCh37
NC_000010.9:g.112562198_112562201del NCBI36
NG_021177.1:g.173054_173057del , LRG_382:g.173054_173057del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2053_2056del MANE Select ENSP00000358532.3:p.Glu685LysfsTer?
ENST00000369519.3:c.2053_2056del ENSP00000358532.3:p.Glu685LysfsTer?
NM_001134363.2:c.2053_2056del NP_001127835.2:p.Glu685LysfsTer?
XM_011539697.1:c.1669_1672del XP_011537999.1:p.Glu557LysfsTer?
XM_017016103.2:c.1888_1891del XP_016871592.1:p.Glu630LysfsTer?
XM_017016104.2:c.1669_1672del XP_016871593.1:p.Glu557LysfsTer?
NM_001134363.3:c.2053_2056del MANE Select NP_001127835.2:p.Glu685LysfsTer?
Search 100 bp 5'
Search 100 bp 3'