Canonical Allele Identifier: CA2497307630
Gene: RBM20 HGNC NCBI

Linked Data

dbSNP Id: rs1844776116
gnomAD v4: 10-110812211-CTG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812218_110812219del , CM000672.2:g.110812218_110812219del GRCh38
NC_000010.10:g.112571976_112571977del , CM000672.1:g.112571976_112571977del GRCh37
NC_000010.9:g.112561966_112561967del NCBI36
NG_021177.1:g.172822_172823del , LRG_382:g.172822_172823del

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.1881-60_1881-59del MANE Select ENSP00000358532.3:n.1881-60_1881-59del
ENST00000369519.3:c.1881-60_1881-59del ENSP00000358532.3:n.1881-60_1881-59del
NM_001134363.2:c.1881-60_1881-59del NP_001127835.2:n.1881-60_1881-59del
XM_011539697.1:c.1497-60_1497-59del XP_011537999.1:n.1497-60_1497-59del
XM_017016103.2:c.1716-60_1716-59del XP_016871592.1:n.1716-60_1716-59del
XM_017016104.2:c.1497-60_1497-59del XP_016871593.1:n.1497-60_1497-59del
NM_001134363.3:c.1881-60_1881-59del MANE Select NP_001127835.2:n.1881-60_1881-59del
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