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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:
CA772795699
Gene: DLX3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1281272304
MyVariant Identifiers:
chr17:g.48072390_48072397del (hg19)
chr17:g.49995026_49995033del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.49995027_49995034del , CM000679.2:g.49995027_49995034del
GRCh38
NC_000017.10:g.48072391_48072398del , CM000679.1:g.48072391_48072398del
GRCh37
NC_000017.9:g.45427390_45427397del
NCBI36
NG_023063.1:g.5192_5199del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000434704.2:c.-35_-28del
MANE Select
ENSP00000389870.2:n.-35_-28del
NM_005220.2:c.-35_-28del
NP_005211.1:n.-35_-28del
XM_011524458.1:c.-35_-28del
XP_011522760.1:n.-35_-28del
NM_005220.3:c.-35_-28del
MANE Select
NP_005211.1:n.-35_-28del
Search 100 bp 5'
Search 100 bp 3'