Canonical Allele Identifier: CA645568266
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812309_110812310delinsTT , CM000672.2:g.110812309_110812310delinsTT GRCh38
NC_000010.10:g.112572067_112572068delinsTT , CM000672.1:g.112572067_112572068delinsTT GRCh37
NC_000010.9:g.112562057_112562058delinsTT NCBI36
NG_021177.1:g.172913_172914delinsTT , LRG_382:g.172913_172914delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1912_1913delinsTT MANE Select ENSP00000358532.3:p.Pro638Leu
ENST00000369519.3:c.1912_1913delinsTT ENSP00000358532.3:p.Pro638Leu
NM_001134363.2:c.1912_1913delinsTT NP_001127835.2:p.Pro638Leu
XM_011539697.1:c.1528_1529delinsTT XP_011537999.1:p.Pro510Leu
XM_017016103.2:c.1747_1748delinsTT XP_016871592.1:p.Pro583Leu
XM_017016104.2:c.1528_1529delinsTT XP_016871593.1:p.Pro510Leu
NM_001134363.3:c.1912_1913delinsTT MANE Select NP_001127835.2:p.Pro638Leu