Canonical Allele Identifier: CA1139770359

Gene: RBM20

Linked Data

• ClinVar Variation Id: 1806153
• ClinVar RCV Id: RCV002470437

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812366_110812367delinsAT , CM000672.2:g.110812366_110812367delinsAT	GRCh38
NC_000010.10:g.112572124_112572125delinsAT , CM000672.1:g.112572124_112572125delinsAT	GRCh37
NC_000010.9:g.112562114_112562115delinsAT	NCBI36
NG_021177.1:g.172970_172971delinsAT , LRG_382:g.172970_172971delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.1969_1970delinsAT MANE Select	ENSP00000358532.3:p.Ser657Ile
ENST00000369519.3:c.1969_1970delinsAT	ENSP00000358532.3:p.Ser657Ile
NM_001134363.2:c.1969_1970delinsAT	NP_001127835.2:p.Ser657Ile
XM_011539697.1:c.1585_1586delinsAT	XP_011537999.1:p.Ser529Ile
XM_017016103.2:c.1804_1805delinsAT	XP_016871592.1:p.Ser602Ile
XM_017016104.2:c.1585_1586delinsAT	XP_016871593.1:p.Ser529Ile
NM_001134363.3:c.1969_1970delinsAT MANE Select	NP_001127835.2:p.Ser657Ile