Linked Data
gnomAD v4:
3-119414390-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414391del , CM000665.2:g.119414391del | GRCh38 |
| NC_000003.11:g.119133238del , CM000665.1:g.119133238del | GRCh37 |
| NC_000003.10:g.120615928del | NCBI36 |
| NG_007665.2:g.125019del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2462del MANE Select | ENSP00000264245.4:p.Gln821ArgfsTer2 | |
| ENST00000264245.8:c.2462del | ENSP00000264245.4:p.Gln821ArgfsTer2 | |
| NM_020754.3:c.2462del | NP_065805.2:p.Gln821ArgfsTer2 | |
| XM_005247671.3:c.2369del | XP_005247728.1:p.Gln790ArgfsTer2 | |
| XM_006713714.2:c.2402del | XP_006713777.1:p.Gln801ArgfsTer2 | |
| XM_006713714.3:c.2402del | XP_006713777.1:p.Gln801ArgfsTer2 | |
| XM_017006955.1:c.1970del | XP_016862444.1:p.Gln657ArgfsTer2 | |
| NM_020754.4:c.2462del MANE Select | NP_065805.2:p.Gln821ArgfsTer2 |