Linked Data
dbSNP Id:
rs1247943355
gnomAD v2:
17-7127989-AGACGG-A
gnomAD v3:
17-7224670-AGACGG-A
gnomAD v4:
17-7224670-AGACGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224672_7224676del , CM000679.2:g.7224672_7224676del | GRCh38 |
| NC_000017.10:g.7127991_7127995del , CM000679.1:g.7127991_7127995del | GRCh37 |
| NC_000017.9:g.7068715_7068719del | NCBI36 |
| NG_007975.1:g.9839_9843del | |
| NG_008391.2:g.376_380del | |
| NG_033038.1:g.14870_14874del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1709_1713del MANE Select | ENSP00000349297.5:p.Asp570GlyfsTer20 | |
| ENST00000322910.9:c.*1664_*1668del | ENSP00000325395.5:n.*1664_*1668del | |
| ENST00000350303.9:c.1643_1647del | ENSP00000344152.5:p.Asp548GlyfsTer20 | |
| ENST00000356839.9:c.1709_1713del | ENSP00000349297.5:p.Asp570GlyfsTer20 | |
| ENST00000542255.6:c.537-43_537-39del | ||
| ENST00000543245.6:c.1778_1782del | ENSP00000438689.2:p.Asp593GlyfsTer20 | |
| ENST00000578033.1:n.40_44del | ||
| ENST00000578319.5:n.290_294del | ||
| ENST00000578711.1:n.1168_1172del | ||
| ENST00000578809.5:n.281_285del | ||
| ENST00000579425.5:n.825_829del | ||
| ENST00000579546.1:c.444_448del | ||
| ENST00000583074.5:n.300-43_300-39del | ||
| ENST00000583848.5:c.75_79del | ENSP00000466487.1:p.Arg26ProfsTer18 | |
| ENST00000583850.5:n.480_484del | ||
| ENST00000583858.5:c.640_644del | ||
| ENST00000585203.6:n.900_904del | ||
| NM_000018.3:c.1709_1713del | NP_000009.1:p.Asp570GlyfsTer20 | |
| NM_001033859.2:c.1643_1647del | NP_001029031.1:p.Asp548GlyfsTer20 | |
| NM_001270447.1:c.1778_1782del | NP_001257376.1:p.Asp593GlyfsTer20 | |
| NM_001270448.1:c.1481_1485del | NP_001257377.1:p.Asp494GlyfsTer20 | |
| XM_006721516.2:c.1679-43_1679-39del | XP_006721579.2:n.1679-43_1679-39del | |
| XM_011523829.1:c.1577-43_1577-39del | XP_011522131.1:n.1577-43_1577-39del | |
| XM_011523830.1:c.1607_1611del | XP_011522132.1:p.Asp536GlyfsTer20 | |
| XR_934021.1:n.1812_1816del | ||
| XR_934022.1:n.1718_1722del | ||
| XR_934023.1:n.1688-43_1688-39del | ||
| XM_006721516.3:c.1679-43_1679-39del | XP_006721579.2:n.1679-43_1679-39del | |
| XM_011523829.2:c.1577-43_1577-39del | XP_011522131.1:n.1577-43_1577-39del | |
| XM_011523830.2:c.1607_1611del | XP_011522132.1:p.Asp536GlyfsTer20 | |
| XM_024450741.1:c.1697_1701del | XP_024306509.1:p.Asp566GlyfsTer20 | |
| XR_934021.2:n.1764_1768del | ||
| XR_934022.2:n.1670_1674del | ||
| XR_934023.2:n.1640-43_1640-39del | ||
| NM_000018.4:c.1709_1713del MANE Select | NP_000009.1:p.Asp570GlyfsTer20 | |
| NM_001033859.3:c.1643_1647del | NP_001029031.1:p.Asp548GlyfsTer20 | |
| NM_001270447.2:c.1778_1782del | NP_001257376.1:p.Asp593GlyfsTer20 | |
| NM_001270448.2:c.1481_1485del | NP_001257377.1:p.Asp494GlyfsTer20 |