Canonical Allele Identifier: CA932526958

Gene: RBM20

Linked Data

• dbSNP Id: rs1844790749
• gnomAD v3: 10-110812778-G-GACACCCCCATCC
• gnomAD v4: 10-110812778-G-GACACCCCCATCC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812779_110812790dup , CM000672.2:g.110812779_110812790dup	GRCh38
NC_000010.10:g.112572537_112572548dup , CM000672.1:g.112572537_112572548dup	GRCh37
NC_000010.9:g.112562527_112562538dup	NCBI36
NG_021177.1:g.173383_173394dup , LRG_382:g.173383_173394dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000369519.4:c.2382_2393dup MANE Select	ENSP00000358532.3:p.Pro798_Asp799insHisProHisPro
ENST00000369519.3:c.2382_2393dup	ENSP00000358532.3:p.Pro798_Asp799insHisProHisPro
NM_001134363.2:c.2382_2393dup	NP_001127835.2:p.Pro798_Asp799insHisProHisPro
XM_011539697.1:c.1998_2009dup	XP_011537999.1:p.Pro670_Asp671insHisProHisPro
XM_017016103.2:c.2217_2228dup	XP_016871592.1:p.Pro743_Asp744insHisProHisPro
XM_017016104.2:c.1998_2009dup	XP_016871593.1:p.Pro670_Asp671insHisProHisPro
NM_001134363.3:c.2382_2393dup MANE Select	NP_001127835.2:p.Pro798_Asp799insHisProHisPro