Linked Data
dbSNP Id:
rs770677864
ExAC:
17:7127733 G / GA
gnomAD v2:
17-7127733-G-GA
gnomAD v4:
17-7224414-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224415dup , CM000679.2:g.7224415dup | GRCh38 |
| NC_000017.10:g.7127734dup , CM000679.1:g.7127734dup | GRCh37 |
| NC_000017.9:g.7068458dup | NCBI36 |
| NG_007975.1:g.9582dup | |
| NG_008391.2:g.636dup | |
| NG_033038.1:g.15130dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1605+22dup MANE Select | ENSP00000349297.5:n.1605+22dup | |
| ENST00000322910.9:c.*1560+22dup | ENSP00000325395.5:n.*1560+22dup | |
| ENST00000350303.9:c.1539+22dup | ENSP00000344152.5:n.1539+22dup | |
| ENST00000356839.9:c.1605+22dup | ENSP00000349297.5:n.1605+22dup | |
| ENST00000542255.6:c.463+22dup | ||
| ENST00000543245.6:c.1674+22dup | ENSP00000438689.2:n.1674+22dup | |
| ENST00000578319.5:n.122dup | ||
| ENST00000578711.1:n.911dup | ||
| ENST00000578809.5:n.177+22dup | ||
| ENST00000579391.1:n.213+22dup | ||
| ENST00000579425.5:n.721+22dup | ||
| ENST00000579546.1:c.344+22dup | ||
| ENST00000579894.5:n.392+22dup | ||
| ENST00000582450.1:n.113+22dup | ||
| ENST00000583074.5:n.226+22dup | ||
| ENST00000583850.5:n.380+22dup | ||
| ENST00000583858.5:c.536+22dup | ||
| ENST00000585203.6:n.796+22dup | ||
| NM_000018.3:c.1605+22dup | NP_000009.1:n.1605+22dup | |
| NM_001033859.2:c.1539+22dup | NP_001029031.1:n.1539+22dup | |
| NM_001270447.1:c.1674+22dup | NP_001257376.1:n.1674+22dup | |
| NM_001270448.1:c.1377+22dup | NP_001257377.1:n.1377+22dup | |
| XM_006721516.2:c.1605+22dup | XP_006721579.2:n.1605+22dup | |
| XM_011523829.1:c.1507+22dup | XP_011522131.1:n.1507+22dup | |
| XM_011523830.1:c.1507+22dup | XP_011522132.1:n.1507+22dup | |
| XR_934021.1:n.1712+22dup | ||
| XR_934022.1:n.1614+22dup | ||
| XR_934023.1:n.1614+22dup | ||
| XM_006721516.3:c.1605+22dup | XP_006721579.2:n.1605+22dup | |
| XM_011523829.2:c.1507+22dup | XP_011522131.1:n.1507+22dup | |
| XM_011523830.2:c.1507+22dup | XP_011522132.1:n.1507+22dup | |
| XM_024450741.1:c.1529dup | XP_024306509.1:p.Ser511GlufsTer21 | |
| XR_934021.2:n.1664+22dup | ||
| XR_934022.2:n.1566+22dup | ||
| XR_934023.2:n.1566+22dup | ||
| NM_000018.4:c.1605+22dup MANE Select | NP_000009.1:n.1605+22dup | |
| NM_001033859.3:c.1539+22dup | NP_001029031.1:n.1539+22dup | |
| NM_001270447.2:c.1674+22dup | NP_001257376.1:n.1674+22dup | |
| NM_001270448.2:c.1377+22dup | NP_001257377.1:n.1377+22dup |