Canonical Allele Identifier: CA2610892818
Gene: RBM20 HGNC NCBI

Linked Data

gnomAD v4: 10-110812560-TGAGTTGGAC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812564_110812572del , CM000672.2:g.110812564_110812572del GRCh38
NC_000010.10:g.112572322_112572330del , CM000672.1:g.112572322_112572330del GRCh37
NC_000010.9:g.112562312_112562320del NCBI36
NG_021177.1:g.173168_173176del , LRG_382:g.173168_173176del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2167_2175del MANE Select ENSP00000358532.3:p.Leu723_Glu725del
ENST00000369519.3:c.2167_2175del ENSP00000358532.3:p.Leu723_Glu725del
NM_001134363.2:c.2167_2175del NP_001127835.2:p.Leu723_Glu725del
XM_011539697.1:c.1783_1791del XP_011537999.1:p.Leu595_Glu597del
XM_017016103.2:c.2002_2010del XP_016871592.1:p.Leu668_Glu670del
XM_017016104.2:c.1783_1791del XP_016871593.1:p.Leu595_Glu597del
NM_001134363.3:c.2167_2175del MANE Select NP_001127835.2:p.Leu723_Glu725del
Search 100 bp 5'
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