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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:
CA2695237376
Gene: ABCD1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.153725682_153725693del , CM000685.2:g.153725682_153725693del
GRCh38
NC_000023.10:g.152991137_152991148del , CM000685.1:g.152991137_152991148del
GRCh37
NC_000023.9:g.152644331_152644342del
NCBI36
NG_009022.2:g.5815_5826del
NG_023231.1:g.4058_4069del
Transcript Alleles
HGVS
Amino-acid change
ENST00000218104.6:c.416_427del
MANE Select
ENSP00000218104.3:p.Leu139_Leu142del
ENST00000218104.5:c.416_427del
ENSP00000218104.3:p.Leu139_Leu142del
NM_000033.3:c.416_427del
NP_000024.2:p.Leu139_Leu142del
XR_938507.1:n.832_843del
XR_938507.2:n.832_843del
NM_000033.4:c.416_427del
MANE Select
NP_000024.2:p.Leu139_Leu142del
Search 100 bp 5'
Search 100 bp 3'