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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:
CA571557078
Gene:
Linked Data
dbSNP Id:
rs1380220699
gnomAD v2:
6-161089737-TGGTGTTGGTG-T
gnomAD v3:
6-160668705-TGGTGTTGGTG-T
gnomAD v4:
6-160668705-TGGTGTTGGTG-T
MyVariant Identifiers:
chr6:g.161089738_161089747del (hg19)
chr6:g.160668706_160668715del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160668706_160668715del , CM000668.2:g.160668706_160668715del
GRCh38
NC_000006.11:g.161089738_161089747del , CM000668.1:g.161089738_161089747del
GRCh37
NC_000006.10:g.161009728_161009737del
NCBI36
NG_016147.1:g.2661_2670del
Transcript Alleles
HGVS
Amino-acid change
ENST00000452651.1:n.115-2342_115-2333del
Search 100 bp 5'
Search 100 bp 3'