Canonical Allele Identifier: CA2573053236
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 1307889
ClinVar RCV Id: RCV001772744
dbSNP Id: rs2135104270
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812430dup , CM000672.2:g.110812430dup GRCh38
NC_000010.10:g.112572188dup , CM000672.1:g.112572188dup GRCh37
NC_000010.9:g.112562178dup NCBI36
NG_021177.1:g.173034dup , LRG_382:g.173034dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2033dup MANE Select ENSP00000358532.3:p.His678GlnfsTer22
ENST00000369519.3:c.2033dup ENSP00000358532.3:p.His678GlnfsTer22
NM_001134363.2:c.2033dup NP_001127835.2:p.His678GlnfsTer22
XM_011539697.1:c.1649dup XP_011537999.1:p.His550GlnfsTer22
XM_017016103.2:c.1868dup XP_016871592.1:p.His623GlnfsTer22
XM_017016104.2:c.1649dup XP_016871593.1:p.His550GlnfsTer22
NM_001134363.3:c.2033dup MANE Select NP_001127835.2:p.His678GlnfsTer22
Search 100 bp 5'
Search 100 bp 3'