Canonical Allele Identifier: CA2610892817

Gene: RBM20

Linked Data

• gnomAD v4: 10-110812560-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812562_110812563del , CM000672.2:g.110812562_110812563del	GRCh38
NC_000010.10:g.112572320_112572321del , CM000672.1:g.112572320_112572321del	GRCh37
NC_000010.9:g.112562310_112562311del	NCBI36
NG_021177.1:g.173166_173167del , LRG_382:g.173166_173167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.2165_2166del MANE Select	ENSP00000358532.3:p.Glu722ValfsTer?
ENST00000369519.3:c.2165_2166del	ENSP00000358532.3:p.Glu722ValfsTer?
NM_001134363.2:c.2165_2166del	NP_001127835.2:p.Glu722ValfsTer?
XM_011539697.1:c.1781_1782del	XP_011537999.1:p.Glu594ValfsTer?
XM_017016103.2:c.2000_2001del	XP_016871592.1:p.Glu667ValfsTer?
XM_017016104.2:c.1781_1782del	XP_016871593.1:p.Glu594ValfsTer?
NM_001134363.3:c.2165_2166del MANE Select	NP_001127835.2:p.Glu722ValfsTer?