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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:
CA873267613
Gene: ABCD1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1284799513
gnomAD v3:
X-153737101-CA-C
gnomAD v4:
X-153737101-CA-C
MyVariant Identifiers:
chrX:g.153737102del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.153737102del , CM000685.2:g.153737102del
GRCh38
NC_000023.10:g.153002556del , CM000685.1:g.153002556del
GRCh37
NC_000023.9:g.152655750del
NCBI36
NG_009022.2:g.17235del
Transcript Alleles
HGVS
Amino-acid change
ENST00000218104.6:c.1394-55del
MANE Select
ENSP00000218104.3:n.1394-55del
ENST00000218104.5:c.1394-55del
ENSP00000218104.3:n.1394-55del
ENST00000443684.2:n.397-55del
NM_000033.3:c.1394-55del
NP_000024.2:n.1394-55del
XR_938507.1:n.1866-55del
XR_938507.2:n.1866-55del
NM_000033.4:c.1394-55del
MANE Select
NP_000024.2:n.1394-55del
Search 100 bp 5'
Search 100 bp 3'