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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:
CA1847331973
Gene: ALDH1B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.38396323_38396324delinsAG , CM000671.2:g.38396323_38396324delinsAG
GRCh38
NC_000009.11:g.38396320_38396321delinsAG , CM000671.1:g.38396320_38396321delinsAG
GRCh37
NC_000009.10:g.38386320_38386321delinsAG
NCBI36
NG_012253.1:g.8619_8620delinsAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000377698.4:c.575_576delinsAG
MANE Select
ENSP00000366927.3:p.Gln192=
ENST00000377698.3:c.575_576delinsAG
ENSP00000366927.3:p.Gln192=
NM_000692.4:c.575_576delinsAG
NP_000683.3:p.Gln192=
XM_011517802.1:c.575_576delinsAG
XP_011516104.1:p.Gln192=
XM_011517802.2:c.575_576delinsAG
XP_011516104.1:p.Gln192=
NM_000692.5:c.575_576delinsAG
MANE Select
NP_000683.3:p.Gln192=
Search 100 bp 5'
Search 100 bp 3'