Canonical Allele Identifier: CA2497307631
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 1040430
ClinVar RCV Id: RCV001344071
dbSNP Id: rs1844787460

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812677_110812679dup , CM000672.2:g.110812677_110812679dup GRCh38
NC_000010.10:g.112572435_112572437dup , CM000672.1:g.112572435_112572437dup GRCh37
NC_000010.9:g.112562425_112562427dup NCBI36
NG_021177.1:g.173281_173283dup , LRG_382:g.173281_173283dup

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.2280_2282dup MANE Select ENSP00000358532.3:p.Arg761_Lys762insArg
ENST00000369519.3:c.2280_2282dup ENSP00000358532.3:p.Arg761_Lys762insArg
NM_001134363.2:c.2280_2282dup NP_001127835.2:p.Arg761_Lys762insArg
XM_011539697.1:c.1896_1898dup XP_011537999.1:p.Arg633_Lys634insArg
XM_017016103.2:c.2115_2117dup XP_016871592.1:p.Arg706_Lys707insArg
XM_017016104.2:c.1896_1898dup XP_016871593.1:p.Arg633_Lys634insArg
NM_001134363.3:c.2280_2282dup MANE Select NP_001127835.2:p.Arg761_Lys762insArg