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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:
CA2400518711
Gene: RASL10A
HGNC
NCBI
Linked Data
dbSNP Id:
rs2061427922
gnomAD v4:
22-29313042-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.29313045del , CM000684.2:g.29313045del
GRCh38
NC_000022.10:g.29709034del , CM000684.1:g.29709034del
GRCh37
NC_000022.9:g.28039034del
NCBI36
NG_032959.1:g.11039del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000216101.7:c.*258del
MANE Select
ENSP00000216101.6:n.*258del
ENST00000216101.6:c.*258del
ENSP00000216101.6:n.*258del
ENST00000401450.3:c.*816del
ENSP00000386095.3:n.*816del
NM_006477.4:c.*258del
NP_006468.1:n.*258del
XM_011529821.1:c.*258del
XP_011528123.1:n.*258del
XM_011529822.1:c.*258del
XP_011528124.1:n.*258del
XM_011529823.1:c.*258del
XP_011528125.1:n.*258del
NM_006477.5:c.*258del
MANE Select
NP_006468.1:n.*258del
Search 100 bp 5'
Search 100 bp 3'