Linked Data
gnomAD v4:
X-137566927-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566930dup , CM000685.2:g.137566930dup | GRCh38 |
| NC_000023.10:g.136649089dup , CM000685.1:g.136649089dup | GRCh37 |
| NC_000023.9:g.136476755dup | NCBI36 |
| NG_008115.1:g.5744dup | |
| NG_008115.2:g.5804dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.239dup MANE Select | ENSP00000287538.5:p.Tyr81LeufsTer? | |
| ENST00000287538.9:c.239dup | ENSP00000287538.5:p.Tyr81LeufsTer? | |
| ENST00000370606.3:c.239dup | ENSP00000359638.3:p.Tyr81LeufsTer? | |
| NM_003413.3:c.239dup | NP_003404.1:p.Tyr81LeufsTer? | |
| NM_001330661.1:c.239dup | NP_001317590.1:p.Tyr81LeufsTer? | |
| NM_003413.4:c.239dup MANE Select | NP_003404.1:p.Tyr81LeufsTer? |