Canonical Allele Identifier: CA2574667537
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 2985989
ClinVar RCV Id: RCV003841596
gnomAD v4: 10-110812768-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812771dup , CM000672.2:g.110812771dup GRCh38
NC_000010.10:g.112572529dup , CM000672.1:g.112572529dup GRCh37
NC_000010.9:g.112562519dup NCBI36
NG_021177.1:g.173375dup , LRG_382:g.173375dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2374dup MANE Select ENSP00000358532.3:p.Glu792GlyfsTer9
ENST00000369519.3:c.2374dup ENSP00000358532.3:p.Glu792GlyfsTer9
NM_001134363.2:c.2374dup NP_001127835.2:p.Glu792GlyfsTer9
XM_011539697.1:c.1990dup XP_011537999.1:p.Glu664GlyfsTer9
XM_017016103.2:c.2209dup XP_016871592.1:p.Glu737GlyfsTer9
XM_017016104.2:c.1990dup XP_016871593.1:p.Glu664GlyfsTer9
NM_001134363.3:c.2374dup MANE Select NP_001127835.2:p.Glu792GlyfsTer9
Search 100 bp 5'
Search 100 bp 3'