Canonical Allele Identifier: CA2739276021

Gene: RBM20

Linked Data

• ClinVar Variation Id: 2815372
• ClinVar RCV Id: RCV003599075

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812439del , CM000672.2:g.110812439del	GRCh38
NC_000010.10:g.112572197del , CM000672.1:g.112572197del	GRCh37
NC_000010.9:g.112562187del	NCBI36
NG_021177.1:g.173043del , LRG_382:g.173043del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.2042del MANE Select	ENSP00000358532.3:p.Tyr681LeufsTer?
ENST00000369519.3:c.2042del	ENSP00000358532.3:p.Tyr681LeufsTer?
NM_001134363.2:c.2042del	NP_001127835.2:p.Tyr681LeufsTer?
XM_011539697.1:c.1658del	XP_011537999.1:p.Tyr553LeufsTer?
XM_017016103.2:c.1877del	XP_016871592.1:p.Tyr626LeufsTer?
XM_017016104.2:c.1658del	XP_016871593.1:p.Tyr553LeufsTer?
NM_001134363.3:c.2042del MANE Select	NP_001127835.2:p.Tyr681LeufsTer?