Canonical Allele Identifier: CA184119

Gene: RBM20

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110821880_110821881delinsG , CM000672.2:g.110821880_110821881delinsG	GRCh38
NC_000010.10:g.112581638_112581639delinsG , CM000672.1:g.112581638_112581639delinsG	GRCh37
NC_000010.9:g.112571628_112571629delinsG	NCBI36
NG_021177.1:g.182484_182485delinsG , LRG_382:g.182484_182485delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.3261_3262delinsG MANE Select	ENSP00000358532.3:p.Ser1087ArgfsTer17
ENST00000369519.3:c.3261_3262delinsG	ENSP00000358532.3:p.Ser1087ArgfsTer17
NM_001134363.2:c.3261_3262delinsG	NP_001127835.2:p.Ser1087ArgfsTer17
XM_011539697.1:c.2877_2878delinsG	XP_011537999.1:p.Ser959ArgfsTer17
XM_017016103.2:c.3096_3097delinsG	XP_016871592.1:p.Ser1032ArgfsTer17
XM_017016104.2:c.2877_2878delinsG	XP_016871593.1:p.Ser959ArgfsTer17
NM_001134363.3:c.3261_3262delinsG MANE Select	NP_001127835.2:p.Ser1087ArgfsTer17