Linked Data
gnomAD v4:
1-53196586-C-CTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53196594_53196596dup , CM000663.2:g.53196594_53196596dup | GRCh38 |
| NC_000001.10:g.53662266_53662268dup , CM000663.1:g.53662266_53662268dup | GRCh37 |
| NC_000001.9:g.53434854_53434856dup | NCBI36 |
| NG_008035.1:g.5166_5168dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.3:c.-350_-348dup | ENSP00000360541.3:n.-350_-348dup | |
| NM_000098.2:c.-350_-348dup | NP_000089.1:n.-350_-348dup | |
| NM_001330589.1:c.-350_-348dup | NP_001317518.1:n.-350_-348dup |