Canonical Allele Identifier: CA659845353
Gene: RBM20 HGNC NCBI

Linked Data

dbSNP Id: rs1293430989
gnomAD v4: 10-110644429-G-GCGATCCCGGGCGGGTCTCGCCC
MyVariant Identifiers: chr10:g.112404187_112404188insCGATCCCGGGCGGGTCTCGCCC (hg19) chr10:g.110644429_110644430insCGATCCCGGGCGGGTCTCGCCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644432_110644453dup , CM000672.2:g.110644432_110644453dup GRCh38
NC_000010.10:g.112404190_112404211dup , CM000672.1:g.112404190_112404211dup GRCh37
NC_000010.9:g.112394180_112394201dup NCBI36
NG_021177.1:g.5036_5057dup , LRG_382:g.5036_5057dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.-23_-2dup MANE Select ENSP00000358532.3:n.-23_-2dup
ENST00000369519.3:c.-23_-2dup ENSP00000358532.3:n.-23_-2dup
NM_001134363.2:c.-23_-2dup NP_001127835.2:n.-23_-2dup
XM_017016103.2:c.26+992_26+1013dup XP_016871592.1:n.26+992_26+1013dup
NM_001134363.3:c.-23_-2dup MANE Select NP_001127835.2:n.-23_-2dup
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