Canonical Allele Identifier: CA2610891277
Gene: RBM20 HGNC NCBI

Linked Data

gnomAD v4: 10-110780973-CAAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110780974_110780976del , CM000672.2:g.110780974_110780976del GRCh38
NC_000010.10:g.112540732_112540734del , CM000672.1:g.112540732_112540734del GRCh37
NC_000010.9:g.112530722_112530724del NCBI36
NG_021177.1:g.141578_141580del , LRG_382:g.141578_141580del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.365_367del MANE Select ENSP00000358532.3:p.Gln122_Val123delinsLeu
ENST00000369519.3:c.365_367del ENSP00000358532.3:p.Gln122_Val123delinsLeu
NM_001134363.2:c.365_367del NP_001127835.2:p.Gln122_Val123delinsLeu
XM_011539697.1:c.-20_-18del XP_011537999.1:n.-20_-18del
XM_017016103.2:c.200_202del XP_016871592.1:p.Gln67_Val68delinsLeu
XM_017016104.2:c.-20_-18del XP_016871593.1:n.-20_-18del
NM_001134363.3:c.365_367del MANE Select NP_001127835.2:p.Gln122_Val123delinsLeu
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