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.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Canonical Allele Identifier:
CA775505836
Gene:
Linked Data
dbSNP Id:
rs1449840609
gnomAD v3:
17-80101518-G-GCGGCC
gnomAD v4:
17-80101518-G-GCGGCC
MyVariant Identifiers:
chr17:g.78075317_78075318insCGGCC (hg19)
chr17:g.80101518_80101519insCGGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80101520_80101524dup , CM000679.2:g.80101520_80101524dup | GRCh38 |
| NC_000017.10:g.78075319_78075323dup , CM000679.1:g.78075319_78075323dup | GRCh37 |
| NC_000017.9:g.75689914_75689918dup | NCBI36 |
| NG_009822.1:g.4965_4969dup , LRG_673:g.4965_4969dup | |
| NG_029761.1:g.69889_69893dup |