Canonical Allele Identifier: CA2610890756
Gene: RBM20 HGNC NCBI

Linked Data

gnomAD v4: 10-110644592-G-GCCGCCCCAGCCACCGCCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644601_110644618dup , CM000672.2:g.110644601_110644618dup GRCh38
NC_000010.10:g.112404359_112404376dup , CM000672.1:g.112404359_112404376dup GRCh37
NC_000010.9:g.112394349_112394366dup NCBI36
NG_021177.1:g.5205_5222dup , LRG_382:g.5205_5222dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.147_164dup MANE Select ENSP00000358532.3:p.Gln55_Ala56insProProProProProGln
ENST00000369519.3:c.147_164dup ENSP00000358532.3:p.Gln55_Ala56insProProProProProGln
NM_001134363.2:c.147_164dup NP_001127835.2:p.Gln55_Ala56insProProProProProGln
XM_017016103.2:c.26+1161_26+1178dup XP_016871592.1:n.26+1161_26+1178dup
NM_001134363.3:c.147_164dup MANE Select NP_001127835.2:p.Gln55_Ala56insProProProProProGln
Search 100 bp 5'
Search 100 bp 3'