Canonical Allele Identifier: CA2610892819
Gene: RBM20 HGNC NCBI

Linked Data

gnomAD v4: 10-110812573-C-CCAGTTG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812573_110812574insCAGTTG , CM000672.2:g.110812573_110812574insCAGTTG GRCh38
NC_000010.10:g.112572331_112572332insCAGTTG , CM000672.1:g.112572331_112572332insCAGTTG GRCh37
NC_000010.9:g.112562321_112562322insCAGTTG NCBI36
NG_021177.1:g.173177_173178insCAGTTG , LRG_382:g.173177_173178insCAGTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2176_2177insCAGTTG MANE Select ENSP00000358532.3:p.Arg726delinsProValGly
ENST00000369519.3:c.2176_2177insCAGTTG ENSP00000358532.3:p.Arg726delinsProValGly
NM_001134363.2:c.2176_2177insCAGTTG NP_001127835.2:p.Arg726delinsProValGly
XM_011539697.1:c.1792_1793insCAGTTG XP_011537999.1:p.Arg598delinsProValGly
XM_017016103.2:c.2011_2012insCAGTTG XP_016871592.1:p.Arg671delinsProValGly
XM_017016104.2:c.1792_1793insCAGTTG XP_016871593.1:p.Arg598delinsProValGly
NM_001134363.3:c.2176_2177insCAGTTG MANE Select NP_001127835.2:p.Arg726delinsProValGly
Search 100 bp 5'
Search 100 bp 3'