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:
CA614642934
Gene:
Linked Data
dbSNP Id:
rs1420556992
gnomAD v2:
14-62968324-A-ATGAT
gnomAD v3:
14-62501606-A-ATGAT
gnomAD v4:
14-62501606-A-ATGAT
MyVariant Identifiers:
chr14:g.62968324_62968325insTGAT (hg19)
chr14:g.62501606_62501607insTGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.62501608_62501611dup , CM000676.2:g.62501608_62501611dup | GRCh38 |
| NC_000014.8:g.62968326_62968329dup , CM000676.1:g.62968326_62968329dup | GRCh37 |
| NC_000014.7:g.62038079_62038082dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_943932.1:n.116-2433_116-2430dup | ||
| XR_943932.2:n.103-2433_103-2430dup |