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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:
CA2578244237
Gene: SLC25A4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.185143493del , CM000666.2:g.185143493del
GRCh38
NC_000004.11:g.186064647del , CM000666.1:g.186064647del
GRCh37
NC_000004.10:g.186301641del
NCBI36
NG_013001.1:g.5231del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000281456.11:c.111+10del
MANE Select
ENSP00000281456.5:n.111+10del
ENST00000281456.10:c.111+10del
ENSP00000281456.5:n.111+10del
ENST00000491736.1:c.111+10del
ENSP00000476711.1:n.111+10del
NM_001151.3:c.111+10del
NP_001142.2:n.111+10del
NM_001151.4:c.111+10del
MANE Select
NP_001142.2:n.111+10del
Search 100 bp 5'
Search 100 bp 3'