Linked Data
gnomAD v4:
14-21312436-CAGGAGAGAGTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312437_21312447del , CM000676.2:g.21312437_21312447del | GRCh38 |
| NC_000014.8:g.21780596_21780606del , CM000676.1:g.21780596_21780606del | GRCh37 |
| NC_000014.7:g.20850436_20850446del | NCBI36 |
| NG_008933.1:g.29461_29471del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1082_1092del MANE Select | ENSP00000382895.2:p.Gln361ArgfsTer12 | |
| ENST00000400017.6:c.1082_1092del | ENSP00000382895.2:p.Gln361ArgfsTer12 | |
| ENST00000556336.5:c.1001_1011del | ENSP00000450445.1:p.Gln334ArgfsTer12 | |
| ENST00000557771.5:c.1001_1011del | ENSP00000451219.1:p.Gln334ArgfsTer12 | |
| NM_020366.3:c.1082_1092del | NP_065099.3:p.Gln361ArgfsTer12 | |
| XM_011536983.1:c.1049_1059del | XP_011535285.1:p.Gln350ArgfsTer12 | |
| NM_020366.4:c.1082_1092del MANE Select | NP_065099.3:p.Gln361ArgfsTer12 |