Canonical Allele Identifier: CA2574675165
Gene: RBM20 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644458_110644459insC , CM000672.2:g.110644458_110644459insC GRCh38
NC_000010.10:g.112404216_112404217insC , CM000672.1:g.112404216_112404217insC GRCh37
NC_000010.9:g.112394206_112394207insC NCBI36
NG_021177.1:g.5062_5063insC , LRG_382:g.5062_5063insC

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.4_5insC MANE Select ENSP00000358532.3:p.Val2AlafsTer?
ENST00000369519.3:c.4_5insC ENSP00000358532.3:p.Val2AlafsTer?
NM_001134363.2:c.4_5insC NP_001127835.2:p.Val2AlafsTer?
XM_017016103.2:c.26+1018_26+1019insC XP_016871592.1:n.26+1018_26+1019insC
NM_001134363.3:c.4_5insC MANE Select NP_001127835.2:p.Val2AlafsTer?