Canonical Allele Identifier: CA378379211
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110780862_110780865del , CM000672.2:g.110780862_110780865del GRCh38
NC_000010.10:g.112540620_112540623del , CM000672.1:g.112540620_112540623del GRCh37
NC_000010.9:g.112530610_112530613del NCBI36
NG_021177.1:g.141466_141469del , LRG_382:g.141466_141469del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.253_256del MANE Select ENSP00000358532.3:p.Ser85LeufsTer18
ENST00000369519.3:c.253_256del ENSP00000358532.3:p.Ser85LeufsTer18
NM_001134363.2:c.253_256del NP_001127835.2:p.Ser85LeufsTer18
XM_011539697.1:c.-132_-129del XP_011537999.1:n.-132_-129del
XM_017016103.2:c.88_91del XP_016871592.1:p.Ser30LeufsTer18
XM_017016104.2:c.-132_-129del XP_016871593.1:n.-132_-129del
NM_001134363.3:c.253_256del MANE Select NP_001127835.2:p.Ser85LeufsTer18