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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:
CA2666624045
Gene: GBE1
HGNC
NCBI
Linked Data
gnomAD v4:
3-81648767-CA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.81648773del , CM000665.2:g.81648773del
GRCh38
NC_000003.11:g.81697924del , CM000665.1:g.81697924del
GRCh37
NC_000003.10:g.81780614del
NCBI36
NG_011810.1:g.118033del
Transcript Alleles
HGVS
Amino-acid change
ENST00000429644.7:c.691+88del
MANE Select
ENSP00000410833.2:n.691+88del
ENST00000429644.6:c.691+88del
ENSP00000410833.2:n.691+88del
ENST00000489715.1:c.568+88del
ENSP00000419638.1:n.568+88del
ENST00000498468.1:n.219+88del
NM_000158.3:c.691+88del
NP_000149.3:n.691+88del
NM_000158.4:c.691+88del
MANE Select
NP_000149.4:n.691+88del
Search 100 bp 5'
Search 100 bp 3'