Linked Data
gnomAD v4:
11-69648092-TCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648093_69648094del , CM000673.2:g.69648093_69648094del | GRCh38 |
| NC_000011.9:g.69462861_69462862del , CM000673.1:g.69462861_69462862del | GRCh37 |
| NC_000011.8:g.69172042_69172043del | NCBI36 |
| NG_007375.1:g.11989_11990del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.674_675del MANE Select | ENSP00000227507.2:p.Ser225LeufsTer15 | |
| ENST00000227507.2:c.674_675del | ENSP00000227507.2:p.Ser225LeufsTer15 | |
| ENST00000536559.1:c.*94_*95del | ENSP00000438482.1:n.*94_*95del | |
| ENST00000542367.1:n.137_138del | ||
| ENST00000545484.1:n.380_381del | ||
| NM_053056.2:c.674_675del | NP_444284.1:p.Ser225LeufsTer15 | |
| XM_006718653.2:c.698_699del | XP_006718716.1:p.Ser233LeufsTer15 | |
| NM_053056.3:c.674_675del MANE Select | NP_444284.1:p.Ser225LeufsTer15 |