Canonical Allele Identifier: CA645568267

Gene: RBM20

Linked Data

• COSMIC: COSM4516594

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812471_110812472delinsTT , CM000672.2:g.110812471_110812472delinsTT	GRCh38
NC_000010.10:g.112572229_112572230delinsTT , CM000672.1:g.112572229_112572230delinsTT	GRCh37
NC_000010.9:g.112562219_112562220delinsTT	NCBI36
NG_021177.1:g.173075_173076delinsTT , LRG_382:g.173075_173076delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.2074_2075delinsTT MANE Select	ENSP00000358532.3:p.Pro692Phe
ENST00000369519.3:c.2074_2075delinsTT	ENSP00000358532.3:p.Pro692Phe
NM_001134363.2:c.2074_2075delinsTT	NP_001127835.2:p.Pro692Phe
XM_011539697.1:c.1690_1691delinsTT	XP_011537999.1:p.Pro564Phe
XM_017016103.2:c.1909_1910delinsTT	XP_016871592.1:p.Pro637Phe
XM_017016104.2:c.1690_1691delinsTT	XP_016871593.1:p.Pro564Phe
NM_001134363.3:c.2074_2075delinsTT MANE Select	NP_001127835.2:p.Pro692Phe