Linked Data
ClinVar Variation Id:
429730
dbSNP Id:
rs1131691553
gnomAD v2:
17-7127822-TGCCACTGTGGTGGAGG-T
gnomAD v4:
17-7224503-TGCCACTGTGGTGGAGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224504_7224519del , CM000679.2:g.7224504_7224519del | GRCh38 |
| NC_000017.10:g.7127823_7127838del , CM000679.1:g.7127823_7127838del | GRCh37 |
| NC_000017.9:g.7068547_7068562del | NCBI36 |
| NG_007975.1:g.9671_9686del | |
| NG_008391.2:g.532_547del | |
| NG_033038.1:g.15026_15041del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1630_1645del MANE Select | ENSP00000349297.5:p.Ala544ProfsTer3 | |
| ENST00000322910.9:c.*1585_*1600del | ENSP00000325395.5:n.*1585_*1600del | |
| ENST00000350303.9:c.1564_1579del | ENSP00000344152.5:p.Ala522ProfsTer3 | |
| ENST00000356839.9:c.1630_1645del | ENSP00000349297.5:p.Ala544ProfsTer3 | |
| ENST00000542255.6:c.488_503del | ||
| ENST00000543245.6:c.1699_1714del | ENSP00000438689.2:p.Ala567ProfsTer3 | |
| ENST00000578319.5:n.211_226del | ||
| ENST00000578711.1:n.1000_1015del | ||
| ENST00000578809.5:n.202_217del | ||
| ENST00000579391.1:n.234_249del | ||
| ENST00000579425.5:n.746_761del | ||
| ENST00000579546.1:c.365_380del | ||
| ENST00000582450.1:n.138_153del | ||
| ENST00000583074.5:n.251_266del | ||
| ENST00000583848.5:c.16_31del | ENSP00000466487.1:p.Ala6ProfsTer3 | |
| ENST00000583850.5:n.401_416del | ||
| ENST00000583858.5:c.561_576del | ||
| ENST00000585203.6:n.821_836del | ||
| NM_000018.3:c.1630_1645del | NP_000009.1:p.Ala544ProfsTer3 | |
| NM_001033859.2:c.1564_1579del | NP_001029031.1:p.Ala522ProfsTer3 | |
| NM_001270447.1:c.1699_1714del | NP_001257376.1:p.Ala567ProfsTer3 | |
| NM_001270448.1:c.1402_1417del | NP_001257377.1:p.Ala468ProfsTer3 | |
| XM_006721516.2:c.1630_1645del | XP_006721579.2:p.Ala544ProfsTer3 | |
| XM_011523829.1:c.1528_1543del | XP_011522131.1:p.Ala510ProfsTer3 | |
| XM_011523830.1:c.1528_1543del | XP_011522132.1:p.Ala510ProfsTer3 | |
| XR_934021.1:n.1733_1748del | ||
| XR_934022.1:n.1639_1654del | ||
| XR_934023.1:n.1639_1654del | ||
| XM_006721516.3:c.1630_1645del | XP_006721579.2:p.Ala544ProfsTer3 | |
| XM_011523829.2:c.1528_1543del | XP_011522131.1:p.Ala510ProfsTer3 | |
| XM_011523830.2:c.1528_1543del | XP_011522132.1:p.Ala510ProfsTer3 | |
| XM_024450741.1:c.1618_1633del | XP_024306509.1:p.Ala540ProfsTer3 | |
| XR_934021.2:n.1685_1700del | ||
| XR_934022.2:n.1591_1606del | ||
| XR_934023.2:n.1591_1606del | ||
| NM_000018.4:c.1630_1645del MANE Select | NP_000009.1:p.Ala544ProfsTer3 | |
| NM_001033859.3:c.1564_1579del | NP_001029031.1:p.Ala522ProfsTer3 | |
| NM_001270447.2:c.1699_1714del | NP_001257376.1:p.Ala567ProfsTer3 | |
| NM_001270448.2:c.1402_1417del | NP_001257377.1:p.Ala468ProfsTer3 |