Canonical Allele Identifier: CA659824356

Gene: RBM20

Linked Data

• dbSNP Id: rs1207617374
• gnomAD v3: 10-110812535-A-ACCACC
• gnomAD v4: 10-110812535-A-ACCACC
• MyVariant Identifiers: chr10:g.112572293_112572294insCCACC (hg19) ; chr10:g.110812535_110812536insCCACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812538_110812542dup , CM000672.2:g.110812538_110812542dup	GRCh38
NC_000010.10:g.112572296_112572300dup , CM000672.1:g.112572296_112572300dup	GRCh37
NC_000010.9:g.112562286_112562290dup	NCBI36
NG_021177.1:g.173142_173146dup , LRG_382:g.173142_173146dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.2141_2145dup MANE Select	ENSP00000358532.3:p.Arg716ThrfsTer?
ENST00000369519.3:c.2141_2145dup	ENSP00000358532.3:p.Arg716ThrfsTer?
NM_001134363.2:c.2141_2145dup	NP_001127835.2:p.Arg716ThrfsTer?
XM_011539697.1:c.1757_1761dup	XP_011537999.1:p.Arg588ThrfsTer?
XM_017016103.2:c.1976_1980dup	XP_016871592.1:p.Arg661ThrfsTer?
XM_017016104.2:c.1757_1761dup	XP_016871593.1:p.Arg588ThrfsTer?
NM_001134363.3:c.2141_2145dup MANE Select	NP_001127835.2:p.Arg716ThrfsTer?