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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:
CA2493474274
Gene: APOB
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.21005155_21005156delinsTG , CM000664.2:g.21005155_21005156delinsTG
GRCh38
NC_000002.11:g.21228027_21228028delinsTG , CM000664.1:g.21228027_21228028delinsTG
GRCh37
NC_000002.10:g.21081532_21081533delinsTG
NCBI36
NG_011793.1:g.43918_43919delinsCA
Transcript Alleles
HGVS
Amino-acid change
ENST00000233242.5:c.11712_11713delinsCA
MANE Select
ENSP00000233242.1:p.Asn3904=
ENST00000616098.4:c.11712_11713delinsCA
ENSP00000477990.1:p.Asn3904=
NM_000384.2:c.11712_11713delinsCA
NP_000375.2:p.Asn3904=
XM_011532809.1:c.5869+5577_5869+5578delinsCA
XP_011531111.1:n.5869+5577_5869+5578delin...
NM_000384.3:c.11712_11713delinsCA
MANE Select
NP_000375.3:p.Asn3904=
Search 100 bp 5'
Search 100 bp 3'