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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:
CA645160471
Gene: ABCD1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1557054299
gnomAD v2:
X-153002572-CT-C
gnomAD v4:
X-153737118-CT-C
MyVariant Identifiers:
chrX:g.153002573del (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.153737119del , CM000685.2:g.153737119del
GRCh38
NC_000023.10:g.153002573del , CM000685.1:g.153002573del
GRCh37
NC_000023.9:g.152655767del
NCBI36
NG_009022.2:g.17252del
Transcript Alleles
HGVS
Amino-acid change
ENST00000218104.6:c.1394-38del
MANE Select
ENSP00000218104.3:n.1394-38del
ENST00000218104.5:c.1394-38del
ENSP00000218104.3:n.1394-38del
ENST00000443684.2:n.397-38del
NM_000033.3:c.1394-38del
NP_000024.2:n.1394-38del
XR_938507.1:n.1866-38del
XR_938507.2:n.1866-38del
NM_000033.4:c.1394-38del
MANE Select
NP_000024.2:n.1394-38del
Search 100 bp 5'
Search 100 bp 3'