Linked Data
dbSNP Id:
rs778051209
ExAC:
17:15932154 A / AAAAAAAC
gnomAD v4:
17-16028840-A-AAAAAAAC
MyVariant Identifiers:
chr17:g.15932154_15932155insAAAAAAC (hg19)
chr17:g.16028840_16028841insAAAAAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16028841_16028847dup , CM000679.2:g.16028841_16028847dup | GRCh38 |
| NC_000017.10:g.15932155_15932161dup , CM000679.1:g.15932155_15932161dup | GRCh37 |
| NC_000017.9:g.15872880_15872886dup | NCBI36 |
| NG_029806.1:g.34462_34468dup | |
| NG_047111.1:g.192900_192906dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.*1319_*1325dup MANE Select | ENSP00000261647.5:n.*1319_*1325dup | |
| ENST00000261647.9:c.*1319_*1325dup | ENSP00000261647.5:n.*1319_*1325dup | |
| ENST00000470649.1:c.247+2139_247+2145dup | ENSP00000465627.1:n.247+2139_247+2145dup | |
| NM_001271420.1:c.*1319_*1325dup | NP_001258349.1:n.*1319_*1325dup | |
| NM_017775.3:c.*1319_*1325dup | NP_060245.3:n.*1319_*1325dup | |
| XM_017024801.2:c.994+2139_994+2145dup | XP_016880290.2:n.994+2139_994+2145dup | |
| XM_017024802.2:c.994+2139_994+2145dup | XP_016880291.2:n.994+2139_994+2145dup | |
| NM_017775.4:c.*1319_*1325dup MANE Select | NP_060245.3:n.*1319_*1325dup | |
| NM_001271420.2:c.*1319_*1325dup | NP_001258349.1:n.*1319_*1325dup |