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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:
CA653506414
Gene: CUBN
HGNC
NCBI
Linked Data
COSMIC:
COSN15654958
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.17129790dup , CM000672.2:g.17129790dup
GRCh38
NC_000010.10:g.17171789dup , CM000672.1:g.17171789dup
GRCh37
NC_000010.9:g.17211795dup
NCBI36
NG_008967.1:g.5028dup , LRG_540:g.5028dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000377833.10:c.-25dup
MANE Select
ENSP00000367064.4:n.-25dup
ENST00000377823.1:c.-25dup
ENSP00000367054.1:n.-25dup
ENST00000377833.8:c.-25dup
ENSP00000367064.4:n.-25dup
NM_001081.3:c.-25dup , LRG_540t1:c.-25dup
NP_001072.2:n.-25dup
XM_011519708.1:c.-25dup
XP_011518010.1:n.-25dup
XM_011519708.2:c.-25dup
XP_011518010.1:n.-25dup
NM_001081.4:c.-25dup
MANE Select
NP_001072.2:n.-25dup
Search 100 bp 5'
Search 100 bp 3'