Linked Data
dbSNP Id:
rs1567568576
gnomAD v2:
17-7127727-GT-G
gnomAD v4:
17-7224408-GT-G
MyVariant Identifiers:
chr17:g.7127728del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224409del , CM000679.2:g.7224409del | GRCh38 |
| NC_000017.10:g.7127728del , CM000679.1:g.7127728del | GRCh37 |
| NC_000017.9:g.7068452del | NCBI36 |
| NG_007975.1:g.9576del | |
| NG_008391.2:g.642del | |
| NG_033038.1:g.15136del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1605+16del MANE Select | ENSP00000349297.5:n.1605+16del | |
| ENST00000322910.9:c.*1560+16del | ENSP00000325395.5:n.*1560+16del | |
| ENST00000350303.9:c.1539+16del | ENSP00000344152.5:n.1539+16del | |
| ENST00000356839.9:c.1605+16del | ENSP00000349297.5:n.1605+16del | |
| ENST00000542255.6:c.463+16del | ||
| ENST00000543245.6:c.1674+16del | ENSP00000438689.2:n.1674+16del | |
| ENST00000578319.5:n.116del | ||
| ENST00000578711.1:n.905del | ||
| ENST00000578809.5:n.177+16del | ||
| ENST00000579391.1:n.213+16del | ||
| ENST00000579425.5:n.721+16del | ||
| ENST00000579546.1:c.344+16del | ||
| ENST00000579894.5:n.392+16del | ||
| ENST00000582450.1:n.113+16del | ||
| ENST00000583074.5:n.226+16del | ||
| ENST00000583850.5:n.380+16del | ||
| ENST00000583858.5:c.536+16del | ||
| ENST00000585203.6:n.796+16del | ||
| NM_000018.3:c.1605+16del | NP_000009.1:n.1605+16del | |
| NM_001033859.2:c.1539+16del | NP_001029031.1:n.1539+16del | |
| NM_001270447.1:c.1674+16del | NP_001257376.1:n.1674+16del | |
| NM_001270448.1:c.1377+16del | NP_001257377.1:n.1377+16del | |
| XM_006721516.2:c.1605+16del | XP_006721579.2:n.1605+16del | |
| XM_011523829.1:c.1507+16del | XP_011522131.1:n.1507+16del | |
| XM_011523830.1:c.1507+16del | XP_011522132.1:n.1507+16del | |
| XR_934021.1:n.1712+16del | ||
| XR_934022.1:n.1614+16del | ||
| XR_934023.1:n.1614+16del | ||
| XM_006721516.3:c.1605+16del | XP_006721579.2:n.1605+16del | |
| XM_011523829.2:c.1507+16del | XP_011522131.1:n.1507+16del | |
| XM_011523830.2:c.1507+16del | XP_011522132.1:n.1507+16del | |
| XM_024450741.1:c.1523del | XP_024306509.1:p.Val508AlafsTer15 | |
| XR_934021.2:n.1664+16del | ||
| XR_934022.2:n.1566+16del | ||
| XR_934023.2:n.1566+16del | ||
| NM_000018.4:c.1605+16del MANE Select | NP_000009.1:n.1605+16del | |
| NM_001033859.3:c.1539+16del | NP_001029031.1:n.1539+16del | |
| NM_001270447.2:c.1674+16del | NP_001257376.1:n.1674+16del | |
| NM_001270448.2:c.1377+16del | NP_001257377.1:n.1377+16del |