Canonical Allele Identifier: CA2610892815
Gene: RBM20 HGNC NCBI

Linked Data

gnomAD v4: 10-110812385-G-GT
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812385_110812386insT , CM000672.2:g.110812385_110812386insT GRCh38
NC_000010.10:g.112572143_112572144insT , CM000672.1:g.112572143_112572144insT GRCh37
NC_000010.9:g.112562133_112562134insT NCBI36
NG_021177.1:g.172989_172990insT , LRG_382:g.172989_172990insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1988_1989insT MANE Select ENSP00000358532.3:p.Ser665LeufsTer4
ENST00000369519.3:c.1988_1989insT ENSP00000358532.3:p.Ser665LeufsTer4
NM_001134363.2:c.1988_1989insT NP_001127835.2:p.Ser665LeufsTer4
XM_011539697.1:c.1604_1605insT XP_011537999.1:p.Ser537LeufsTer4
XM_017016103.2:c.1823_1824insT XP_016871592.1:p.Ser610LeufsTer4
XM_017016104.2:c.1604_1605insT XP_016871593.1:p.Ser537LeufsTer4
NM_001134363.3:c.1988_1989insT MANE Select NP_001127835.2:p.Ser665LeufsTer4
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