Linked Data
ClinVar Variation Id:
422785
ClinVar RCV Id:
RCV000481265
dbSNP Id:
rs754154374
ExAC:
17:7127925 G / GCCCCCA
gnomAD v3:
17-7224606-G-GCCCCCA
gnomAD v4:
17-7224606-G-GCCCCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224623_7224628dup , CM000679.2:g.7224623_7224628dup | GRCh38 |
| NC_000017.10:g.7127942_7127947dup , CM000679.1:g.7127942_7127947dup | GRCh37 |
| NC_000017.9:g.7068666_7068671dup | NCBI36 |
| NG_007975.1:g.9790_9795dup | |
| NG_008391.2:g.439_444dup | |
| NG_033038.1:g.14933_14938dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1679-19_1679-14dup MANE Select | ENSP00000349297.5:n.1679-19_1679-14dup | |
| ENST00000322910.9:c.*1634-19_*1634-14dup | ENSP00000325395.5:n.*1634-19_*1634-14dup | |
| ENST00000350303.9:c.1613-19_1613-14dup | ENSP00000344152.5:n.1613-19_1613-14dup | |
| ENST00000356839.9:c.1679-19_1679-14dup | ENSP00000349297.5:n.1679-19_1679-14dup | |
| ENST00000542255.6:c.536+71_536+76dup | ||
| ENST00000543245.6:c.1748-19_1748-14dup | ENSP00000438689.2:n.1748-19_1748-14dup | |
| ENST00000578319.5:n.260-19_260-14dup | ||
| ENST00000578711.1:n.1119_1124dup | ||
| ENST00000578809.5:n.251-19_251-14dup | ||
| ENST00000579425.5:n.795-19_795-14dup | ||
| ENST00000579546.1:c.414-19_414-14dup | ||
| ENST00000582450.1:n.257_262dup | ||
| ENST00000583074.5:n.299+71_299+76dup | ||
| ENST00000583848.5:c.65-39_65-34dup | ENSP00000466487.1:n.65-39_65-34dup | |
| ENST00000583850.5:n.450-19_450-14dup | ||
| ENST00000583858.5:c.610-19_610-14dup | ||
| ENST00000585203.6:n.870-19_870-14dup | ||
| NM_000018.3:c.1679-19_1679-14dup | NP_000009.1:n.1679-19_1679-14dup | |
| NM_001033859.2:c.1613-19_1613-14dup | NP_001029031.1:n.1613-19_1613-14dup | |
| NM_001270447.1:c.1748-19_1748-14dup | NP_001257376.1:n.1748-19_1748-14dup | |
| NM_001270448.1:c.1451-19_1451-14dup | NP_001257377.1:n.1451-19_1451-14dup | |
| XM_006721516.2:c.1678+71_1678+76dup | XP_006721579.2:n.1678+71_1678+76dup | |
| XM_011523829.1:c.1576+71_1576+76dup | XP_011522131.1:n.1576+71_1576+76dup | |
| XM_011523830.1:c.1577-19_1577-14dup | XP_011522132.1:n.1577-19_1577-14dup | |
| XR_934021.1:n.1782-19_1782-14dup | ||
| XR_934022.1:n.1688-19_1688-14dup | ||
| XR_934023.1:n.1687+71_1687+76dup | ||
| XM_006721516.3:c.1678+71_1678+76dup | XP_006721579.2:n.1678+71_1678+76dup | |
| XM_011523829.2:c.1576+71_1576+76dup | XP_011522131.1:n.1576+71_1576+76dup | |
| XM_011523830.2:c.1577-19_1577-14dup | XP_011522132.1:n.1577-19_1577-14dup | |
| XM_024450741.1:c.1667-19_1667-14dup | XP_024306509.1:n.1667-19_1667-14dup | |
| XR_934021.2:n.1734-19_1734-14dup | ||
| XR_934022.2:n.1640-19_1640-14dup | ||
| XR_934023.2:n.1639+71_1639+76dup | ||
| NM_000018.4:c.1679-19_1679-14dup MANE Select | NP_000009.1:n.1679-19_1679-14dup | |
| NM_001033859.3:c.1613-19_1613-14dup | NP_001029031.1:n.1613-19_1613-14dup | |
| NM_001270447.2:c.1748-19_1748-14dup | NP_001257376.1:n.1748-19_1748-14dup | |
| NM_001270448.2:c.1451-19_1451-14dup | NP_001257377.1:n.1451-19_1451-14dup |