Canonical Allele Identifier: CA133264

Gene: RBM20

Linked Data

• ClinVar Variation Id: 43970
• ClinVar RCV Id: RCV000183890 ; RCV000036942 ; RCV000617613 ; RCV000231300 ; RCV000392741 ; RCV001729363
• dbSNP Id: rs397516593
• ExAC: 10:112404334 T / TGCA
• gnomAD v2: 10-112404334-T-TGCA
• gnomAD v3: 10-110644576-T-TGCA
• gnomAD v4: 10-110644576-T-TGCA
• MyVariant Identifiers: chr10:g.112404340_112404342dupAGC (hg19) ; chr10:g.112404334_112404335insGCA (hg19) ; chr10:g.110644582_110644584dupAGC (hg38) ; chr10:g.110644576_110644577insGCA (hg38)
• PubMed: PMID:25351510

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110644582_110644584dup , CM000672.2:g.110644582_110644584dup	GRCh38
NC_000010.10:g.112404340_112404342dup , CM000672.1:g.112404340_112404342dup	GRCh37
NC_000010.9:g.112394330_112394332dup	NCBI36
NG_021177.1:g.5186_5188dup , LRG_382:g.5186_5188dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.128_130dup MANE Select	ENSP00000358532.3:p.Gln43_Pro44insGln
ENST00000369519.3:c.128_130dup	ENSP00000358532.3:p.Gln43_Pro44insGln
NM_001134363.2:c.128_130dup	NP_001127835.2:p.Gln43_Pro44insGln
XM_017016103.2:c.26+1142_26+1144dup	XP_016871592.1:n.26+1142_26+1144dup
NM_001134363.3:c.128_130dup MANE Select	NP_001127835.2:p.Gln43_Pro44insGln