Linked Data
gnomAD v4:
17-63945476-CGGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63945478_63945480del , CM000679.2:g.63945478_63945480del | GRCh38 |
| NC_000017.10:g.62022838_62022840del , CM000679.1:g.62022838_62022840del | GRCh37 |
| NC_000017.9:g.59376570_59376572del | NCBI36 |
| NG_011699.1:g.32440_32442del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3601_3603del MANE Select | ENSP00000396320.1:p.Ser1201del | |
| ENST00000578147.5:c.3601_3603del | ENSP00000463963.1:p.Ser1201del | |
| NM_000334.4:c.3601_3603del MANE Select | NP_000325.4:p.Ser1201del | |
| XM_005257566.3:c.3601_3603del | XP_005257623.1:p.Ser1201del |