Linked Data
dbSNP Id:
rs747803116
ExAC:
17:4925800 CGAG / C
gnomAD v2:
17-4925800-CGAG-C
gnomAD v4:
17-5022505-CGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5022511_5022513del , CM000679.2:g.5022511_5022513del | GRCh38 |
| NC_000017.10:g.4925806_4925808del , CM000679.1:g.4925806_4925808del | GRCh37 |
| NC_000017.9:g.4866530_4866532del | NCBI36 |
| NG_034137.1:g.29564_29566del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320785.10:c.2430_2432del MANE Select | ENSP00000320821.5:p.Glu811del | |
| ENST00000320785.9:c.2430_2432del | ENSP00000320821.5:p.Glu811del | |
| NM_006612.5:c.2430_2432del | NP_006603.2:p.Glu811del | |
| XM_005256424.1:c.2430_2432del | XP_005256481.1:p.Glu811del | |
| XM_005256424.2:c.2430_2432del | XP_005256481.1:p.Glu811del | |
| NM_006612.6:c.2430_2432del MANE Select | NP_006603.2:p.Glu811del |