Linked Data
gnomAD v4:
1-115033344-A-ATTTTATCTTTGATT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033346_115033359dup , CM000663.2:g.115033346_115033359dup | GRCh38 |
| NC_000001.10:g.115575967_115575980dup , CM000663.1:g.115575967_115575980dup | GRCh37 |
| NC_000001.9:g.115377490_115377503dup | NCBI36 |
| NG_015891.1:g.8553_8566dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256592.3:c.-1-16_-1-3dup MANE Select | ENSP00000256592.1:n.-1-16_-1-3dup | |
| ENST00000256592.2:c.-1-16_-1-3dup | ENSP00000256592.1:n.-1-16_-1-3dup | |
| NM_000549.4:c.-1-16_-1-3dup | NP_000540.2:n.-1-16_-1-3dup | |
| XM_011542065.1:c.-17_-4dup | XP_011540367.1:n.-17_-4dup | |
| XM_011542065.2:c.-17_-4dup | XP_011540367.1:n.-17_-4dup | |
| NM_000549.5:c.-1-16_-1-3dup MANE Select | NP_000540.2:n.-1-16_-1-3dup |