Linked Data
dbSNP Id:
rs1597538893
gnomAD v2:
17-7127930-C-CA
gnomAD v4:
17-7224611-C-CA
MyVariant Identifiers:
chr17:g.7127931_7127932insA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224612dup , CM000679.2:g.7224612dup | GRCh38 |
| NC_000017.10:g.7127931dup , CM000679.1:g.7127931dup | GRCh37 |
| NC_000017.9:g.7068655dup | NCBI36 |
| NG_007975.1:g.9779dup | |
| NG_008391.2:g.439dup | |
| NG_033038.1:g.14933dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1679-30dup MANE Select | ENSP00000349297.5:n.1679-30dup | |
| ENST00000322910.9:c.*1634-30dup | ENSP00000325395.5:n.*1634-30dup | |
| ENST00000350303.9:c.1613-30dup | ENSP00000344152.5:n.1613-30dup | |
| ENST00000356839.9:c.1679-30dup | ENSP00000349297.5:n.1679-30dup | |
| ENST00000542255.6:c.536+60dup | ||
| ENST00000543245.6:c.1748-30dup | ENSP00000438689.2:n.1748-30dup | |
| ENST00000578319.5:n.260-30dup | ||
| ENST00000578711.1:n.1108dup | ||
| ENST00000578809.5:n.251-30dup | ||
| ENST00000579425.5:n.795-30dup | ||
| ENST00000579546.1:c.414-30dup | ||
| ENST00000582450.1:n.246dup | ||
| ENST00000583074.5:n.299+60dup | ||
| ENST00000583848.5:c.65-50dup | ENSP00000466487.1:n.65-50dup | |
| ENST00000583850.5:n.450-30dup | ||
| ENST00000583858.5:c.610-30dup | ||
| ENST00000585203.6:n.870-30dup | ||
| NM_000018.3:c.1679-30dup | NP_000009.1:n.1679-30dup | |
| NM_001033859.2:c.1613-30dup | NP_001029031.1:n.1613-30dup | |
| NM_001270447.1:c.1748-30dup | NP_001257376.1:n.1748-30dup | |
| NM_001270448.1:c.1451-30dup | NP_001257377.1:n.1451-30dup | |
| XM_006721516.2:c.1678+60dup | XP_006721579.2:n.1678+60dup | |
| XM_011523829.1:c.1576+60dup | XP_011522131.1:n.1576+60dup | |
| XM_011523830.1:c.1577-30dup | XP_011522132.1:n.1577-30dup | |
| XR_934021.1:n.1782-30dup | ||
| XR_934022.1:n.1688-30dup | ||
| XR_934023.1:n.1687+60dup | ||
| XM_006721516.3:c.1678+60dup | XP_006721579.2:n.1678+60dup | |
| XM_011523829.2:c.1576+60dup | XP_011522131.1:n.1576+60dup | |
| XM_011523830.2:c.1577-30dup | XP_011522132.1:n.1577-30dup | |
| XM_024450741.1:c.1667-30dup | XP_024306509.1:n.1667-30dup | |
| XR_934021.2:n.1734-30dup | ||
| XR_934022.2:n.1640-30dup | ||
| XR_934023.2:n.1639+60dup | ||
| NM_000018.4:c.1679-30dup MANE Select | NP_000009.1:n.1679-30dup | |
| NM_001033859.3:c.1613-30dup | NP_001029031.1:n.1613-30dup | |
| NM_001270447.2:c.1748-30dup | NP_001257376.1:n.1748-30dup | |
| NM_001270448.2:c.1451-30dup | NP_001257377.1:n.1451-30dup |