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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2589099373
Gene: RBM20
HGNC
NCBI
Linked Data
gnomAD v3:
10-110644448-GC-G
gnomAD v4:
10-110644448-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.110644452del , CM000672.2:g.110644452del
GRCh38
NC_000010.10:g.112404210del , CM000672.1:g.112404210del
GRCh37
NC_000010.9:g.112394200del
NCBI36
NG_021177.1:g.5056del , LRG_382:g.5056del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000369519.4:c.-3del
MANE Select
ENSP00000358532.3:n.-3del
ENST00000369519.3:c.-3del
ENSP00000358532.3:n.-3del
NM_001134363.2:c.-3del
NP_001127835.2:n.-3del
XM_017016103.2:c.26+1012del
XP_016871592.1:n.26+1012del
NM_001134363.3:c.-3del
MANE Select
NP_001127835.2:n.-3del
Search 100 bp 5'
Search 100 bp 3'