Linked Data
gnomAD v3:
13-27924591-G-GTGCCGCCCGCTGCCCCCGT
gnomAD v4:
13-27924591-G-GTGCCGCCCGCTGCCCCCGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924601_27924619dup , CM000675.2:g.27924601_27924619dup | GRCh38 |
| NC_000013.10:g.28498738_28498756dup , CM000675.1:g.28498738_28498756dup | GRCh37 |
| NC_000013.9:g.27396738_27396756dup | NCBI36 |
| NG_008183.1:g.9571_9589dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.752_770dup MANE Select | ENSP00000370421.4:p.Glu258CysfsTer15 | |
| ENST00000381033.4:c.752_770dup | ENSP00000370421.4:p.Glu258CysfsTer15 | |
| NM_000209.3:c.752_770dup | NP_000200.1:p.Glu258CysfsTer15 | |
| NM_000209.4:c.752_770dup MANE Select | NP_000200.1:p.Glu258CysfsTer15 |