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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:
CA2671363043
Gene: IBSP
HGNC
NCBI
Linked Data
gnomAD v4:
4-87811342-T-TTTCAAACG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.87811345_87811352dup , CM000666.2:g.87811345_87811352dup
GRCh38
NC_000004.11:g.88732497_88732504dup , CM000666.1:g.88732497_88732504dup
GRCh37
NC_000004.10:g.88951521_88951528dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000226284.7:c.406-17_406-10dup
MANE Select
ENSP00000226284.5:n.406-17_406-10dup
ENST00000226284.6:c.406-17_406-10dup
ENSP00000226284.5:n.406-17_406-10dup
NM_004967.3:c.406-17_406-10dup
NP_004958.2:n.406-17_406-10dup
NM_004967.4:c.406-17_406-10dup
MANE Select
NP_004958.2:n.406-17_406-10dup
Search 100 bp 5'
Search 100 bp 3'