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:
CA613598100
Gene:
Linked Data
dbSNP Id:
rs1306981998
gnomAD v2:
14-39020499-C-CTTTA
gnomAD v3:
14-38551295-C-CTTTA
gnomAD v4:
14-38551295-C-CTTTA
MyVariant Identifiers:
chr14:g.39020499_39020500insTTTA (hg19)
chr14:g.38551295_38551296insTTTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.38551298_38551301dup , CM000676.2:g.38551298_38551301dup | GRCh38 |
| NC_000014.8:g.39020502_39020505dup , CM000676.1:g.39020502_39020505dup | GRCh37 |
| NC_000014.7:g.38090253_38090256dup | NCBI36 |