Canonical Allele Identifier: CA2610892814

Gene: RBM20

Linked Data

• gnomAD v4: 10-110812329-CCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812330_110812332del , CM000672.2:g.110812330_110812332del	GRCh38
NC_000010.10:g.112572088_112572090del , CM000672.1:g.112572088_112572090del	GRCh37
NC_000010.9:g.112562078_112562080del	NCBI36
NG_021177.1:g.172934_172936del , LRG_382:g.172934_172936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.1933_1935del MANE Select	ENSP00000358532.3:p.Pro645del
ENST00000369519.3:c.1933_1935del	ENSP00000358532.3:p.Pro645del
NM_001134363.2:c.1933_1935del	NP_001127835.2:p.Pro645del
XM_011539697.1:c.1549_1551del	XP_011537999.1:p.Pro517del
XM_017016103.2:c.1768_1770del	XP_016871592.1:p.Pro590del
XM_017016104.2:c.1549_1551del	XP_016871593.1:p.Pro517del
NM_001134363.3:c.1933_1935del MANE Select	NP_001127835.2:p.Pro645del