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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:
CA129835839
Gene:
Linked Data
dbSNP Id:
rs988297626
gnomAD v2:
5-158760082-CTTGGGGCTGATGCTTGGAGA-C
gnomAD v3:
5-159333074-CTTGGGGCTGATGCTTGGAGA-C
gnomAD v4:
5-159333074-CTTGGGGCTGATGCTTGGAGA-C
MyVariant Identifiers:
chr5:g.158760083_158760102del (hg19)
chr5:g.159333075_159333094del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.159333078_159333097del , CM000667.2:g.159333078_159333097del
GRCh38
NC_000005.9:g.158760086_158760105del , CM000667.1:g.158760086_158760105del
GRCh37
NC_000005.8:g.158692664_158692683del
NCBI36
NG_009618.1:g.2380_2399del , LRG_71:g.2380_2399del
Transcript Alleles
HGVS
Amino-acid change
NR_037889.1:n.745+75_745+94del
Search 100 bp 5'
Search 100 bp 3'