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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:
CA3156424
Gene: SLC25A4
HGNC
NCBI
Linked Data
dbSNP Id:
rs770448286
ExAC:
4:186065901 AC / A
gnomAD v2:
4-186065901-AC-A
gnomAD v4:
4-185144747-AC-A
MyVariant Identifiers:
chr4:g.186065902del (hg19)
chr4:g.185144748del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.185144750del , CM000666.2:g.185144750del
GRCh38
NC_000004.11:g.186065904del , CM000666.1:g.186065904del
GRCh37
NC_000004.10:g.186302898del
NCBI36
NG_013001.1:g.6488del
Transcript Alleles
HGVS
Amino-acid change
ENST00000281456.11:c.112-14del
MANE Select
ENSP00000281456.5:n.112-14del
ENST00000281456.10:c.112-14del
ENSP00000281456.5:n.112-14del
ENST00000491736.1:c.112-14del
ENSP00000476711.1:n.112-14del
NM_001151.3:c.112-14del
NP_001142.2:n.112-14del
NM_001151.4:c.112-14del
MANE Select
NP_001142.2:n.112-14del
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