Canonical Allele Identifier: CA2610892825
Gene: RBM20 HGNC NCBI

Linked Data

gnomAD v4: 10-110812768-CGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812770_110812771del , CM000672.2:g.110812770_110812771del GRCh38
NC_000010.10:g.112572528_112572529del , CM000672.1:g.112572528_112572529del GRCh37
NC_000010.9:g.112562518_112562519del NCBI36
NG_021177.1:g.173374_173375del , LRG_382:g.173374_173375del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2373_2374del MANE Select ENSP00000358532.3:p.Glu792LysfsTer8
ENST00000369519.3:c.2373_2374del ENSP00000358532.3:p.Glu792LysfsTer8
NM_001134363.2:c.2373_2374del NP_001127835.2:p.Glu792LysfsTer8
XM_011539697.1:c.1989_1990del XP_011537999.1:p.Glu664LysfsTer8
XM_017016103.2:c.2208_2209del XP_016871592.1:p.Glu737LysfsTer8
XM_017016104.2:c.1989_1990del XP_016871593.1:p.Glu664LysfsTer8
NM_001134363.3:c.2373_2374del MANE Select NP_001127835.2:p.Glu792LysfsTer8
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