Canonical Allele Identifier: CA658797537
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 538015
ClinVar RCV Id: RCV000647147 RCV000769266 RCV001724115 RCV002422356
dbSNP Id: rs1554842673
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812366_110812367delinsAG , CM000672.2:g.110812366_110812367delinsAG GRCh38
NC_000010.10:g.112572124_112572125delinsAG , CM000672.1:g.112572124_112572125delinsAG GRCh37
NC_000010.9:g.112562114_112562115delinsAG NCBI36
NG_021177.1:g.172970_172971delinsAG , LRG_382:g.172970_172971delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1969_1970delinsAG MANE Select ENSP00000358532.3:p.Ser657=
ENST00000369519.3:c.1969_1970delinsAG ENSP00000358532.3:p.Ser657=
NM_001134363.2:c.1969_1970delinsAG NP_001127835.2:p.Ser657=
XM_011539697.1:c.1585_1586delinsAG XP_011537999.1:p.Ser529=
XM_017016103.2:c.1804_1805delinsAG XP_016871592.1:p.Ser602=
XM_017016104.2:c.1585_1586delinsAG XP_016871593.1:p.Ser529=
NM_001134363.3:c.1969_1970delinsAG MANE Select NP_001127835.2:p.Ser657=
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