Linked Data
gnomAD v4:
9-38396488-CGGCCATCGCCCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396490_38396501del , CM000671.2:g.38396490_38396501del | GRCh38 |
| NC_000009.11:g.38396487_38396498del , CM000671.1:g.38396487_38396498del | GRCh37 |
| NC_000009.10:g.38386487_38386498del | NCBI36 |
| NG_012253.1:g.8786_8797del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.742_753del MANE Select | ENSP00000366927.3:p.Ala248_Gln251del | |
| ENST00000377698.3:c.742_753del | ENSP00000366927.3:p.Ala248_Gln251del | |
| NM_000692.4:c.742_753del | NP_000683.3:p.Ala248_Gln251del | |
| XM_011517802.1:c.742_753del | XP_011516104.1:p.Ala248_Gln251del | |
| XM_011517802.2:c.742_753del | XP_011516104.1:p.Ala248_Gln251del | |
| NM_000692.5:c.742_753del MANE Select | NP_000683.3:p.Ala248_Gln251del |