Canonical Allele Identifier: CA596112342
Gene: RBM20 HGNC NCBI

Linked Data

dbSNP Id: rs1470911064
gnomAD v2: 10-112572180-CT-C
gnomAD v4: 10-110812422-CT-C
MyVariant Identifiers: chr10:g.112572181del (hg19) chr10:g.110812423del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812423del , CM000672.2:g.110812423del GRCh38
NC_000010.10:g.112572181del , CM000672.1:g.112572181del GRCh37
NC_000010.9:g.112562171del NCBI36
NG_021177.1:g.173027del , LRG_382:g.173027del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2026del MANE Select ENSP00000358532.3:p.Trp676GlyfsTer?
ENST00000369519.3:c.2026del ENSP00000358532.3:p.Trp676GlyfsTer?
NM_001134363.2:c.2026del NP_001127835.2:p.Trp676GlyfsTer?
XM_011539697.1:c.1642del XP_011537999.1:p.Trp548GlyfsTer?
XM_017016103.2:c.1861del XP_016871592.1:p.Trp621GlyfsTer?
XM_017016104.2:c.1642del XP_016871593.1:p.Trp548GlyfsTer?
NM_001134363.3:c.2026del MANE Select NP_001127835.2:p.Trp676GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'