Linked Data
gnomAD v4:
14-21312448-GAAGATTTGGAAAAAGAACGAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312451_21312471del , CM000676.2:g.21312451_21312471del | GRCh38 |
| NC_000014.8:g.21780610_21780630del , CM000676.1:g.21780610_21780630del | GRCh37 |
| NC_000014.7:g.20850450_20850470del | NCBI36 |
| NG_008933.1:g.29475_29495del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1096_1116del MANE Select | ENSP00000382895.2:p.Asp366_Lys372del | |
| ENST00000400017.6:c.1096_1116del | ENSP00000382895.2:p.Asp366_Lys372del | |
| ENST00000556336.5:c.1015_1035del | ENSP00000450445.1:p.Asp339_Lys345del | |
| ENST00000557771.5:c.1015_1035del | ENSP00000451219.1:p.Asp339_Lys345del | |
| NM_020366.3:c.1096_1116del | NP_065099.3:p.Asp366_Lys372del | |
| XM_011536983.1:c.1063_1083del | XP_011535285.1:p.Asp355_Lys361del | |
| NM_020366.4:c.1096_1116del MANE Select | NP_065099.3:p.Asp366_Lys372del |