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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:
CA2665773522
Gene: TRAIP
HGNC
NCBI
Linked Data
gnomAD v4:
3-49828774-AG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.49828775del , CM000665.2:g.49828775del
GRCh38
NC_000003.11:g.49866208del , CM000665.1:g.49866208del
GRCh37
NC_000003.10:g.49841212del
NCBI36
NG_046695.1:g.32785del
Transcript Alleles
HGVS
Amino-acid change
ENST00000331456.7:c.*328del
MANE Select
ENSP00000328203.2:n.*328del
ENST00000331456.6:c.*328del
ENSP00000328203.2:n.*328del
ENST00000491060.1:n.892del
NM_005879.2:c.*328del
NP_005870.2:n.*328del
XM_011533264.1:c.*328del
XP_011531566.1:n.*328del
XM_017005526.1:c.*328del
XP_016861015.1:n.*328del
XR_001739979.1:n.1942del
NM_005879.3:c.*328del
MANE Select
NP_005870.2:n.*328del
Search 100 bp 5'
Search 100 bp 3'