Canonical Allele Identifier: CA596112231

Gene: RBM20

Linked Data

• ClinVar Variation Id: 518222
• ClinVar RCV Id: RCV000613931 ; RCV003162757
• dbSNP Id: rs1231520936
• gnomAD v2: 10-112540831-ATGC-A
• gnomAD v3: 10-110781073-ATGC-A
• gnomAD v4: 10-110781073-ATGC-A
• MyVariant Identifiers: chr10:g.112540835_112540837del (hg19) ; chr10:g.112540832_112540834del (hg19) ; chr10:g.110781077_110781079del (hg38) ; chr10:g.110781074_110781076del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110781077_110781079del , CM000672.2:g.110781077_110781079del	GRCh38
NC_000010.10:g.112540835_112540837del , CM000672.1:g.112540835_112540837del	GRCh37
NC_000010.9:g.112530825_112530827del	NCBI36
NG_021177.1:g.141681_141683del , LRG_382:g.141681_141683del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.468_470del MANE Select	ENSP00000358532.3:p.Ala157del
ENST00000369519.3:c.468_470del	ENSP00000358532.3:p.Ala157del
NM_001134363.2:c.468_470del	NP_001127835.2:p.Ala157del
XM_011539697.1:c.84_86del	XP_011537999.1:p.Ala29del
XM_017016103.2:c.303_305del	XP_016871592.1:p.Ala102del
XM_017016104.2:c.84_86del	XP_016871593.1:p.Ala29del
NM_001134363.3:c.468_470del MANE Select	NP_001127835.2:p.Ala157del