Canonical Allele Identifier: CA2610890753
Gene: RBM20 HGNC NCBI

Linked Data

gnomAD v4: 10-110644586-GCCGCCGCCGCCCCAGCCA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644592_110644609del , CM000672.2:g.110644592_110644609del GRCh38
NC_000010.10:g.112404350_112404367del , CM000672.1:g.112404350_112404367del GRCh37
NC_000010.9:g.112394340_112394357del NCBI36
NG_021177.1:g.5196_5213del , LRG_382:g.5196_5213del

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.138_155del MANE Select ENSP00000358532.3:p.Pro47_Pro52del
ENST00000369519.3:c.138_155del ENSP00000358532.3:p.Pro47_Pro52del
NM_001134363.2:c.138_155del NP_001127835.2:p.Pro47_Pro52del
XM_017016103.2:c.26+1152_26+1169del XP_016871592.1:n.26+1152_26+1169del
NM_001134363.3:c.138_155del MANE Select NP_001127835.2:p.Pro47_Pro52del
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