Canonical Allele Identifier: CA2574667578
Gene: RBM20 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812375del , CM000672.2:g.110812375del GRCh38
NC_000010.10:g.112572133del , CM000672.1:g.112572133del GRCh37
NC_000010.9:g.112562123del NCBI36
NG_021177.1:g.172979del , LRG_382:g.172979del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1978del MANE Select ENSP00000358532.3:p.Ser660AlafsTer?
ENST00000369519.3:c.1978del ENSP00000358532.3:p.Ser660AlafsTer?
NM_001134363.2:c.1978del NP_001127835.2:p.Ser660AlafsTer?
XM_011539697.1:c.1594del XP_011537999.1:p.Ser532AlafsTer?
XM_017016103.2:c.1813del XP_016871592.1:p.Ser605AlafsTer?
XM_017016104.2:c.1594del XP_016871593.1:p.Ser532AlafsTer?
NM_001134363.3:c.1978del MANE Select NP_001127835.2:p.Ser660AlafsTer?