Linked Data
dbSNP Id:
rs748253038
ExAC:
17:15930886 T / TATCA
gnomAD v2:
17-15930886-T-TATCA
gnomAD v4:
17-16027572-T-TATCA
MyVariant Identifiers:
chr17:g.15930886_15930887insATCA (hg19)
chr17:g.16027572_16027573insATCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16027573_16027576dup , CM000679.2:g.16027573_16027576dup | GRCh38 |
| NC_000017.10:g.15930887_15930890dup , CM000679.1:g.15930887_15930890dup | GRCh37 |
| NC_000017.9:g.15871612_15871615dup | NCBI36 |
| NG_029806.1:g.33194_33197dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.*51_*54dup MANE Select | ENSP00000261647.5:n.*51_*54dup | |
| ENST00000261647.9:c.*51_*54dup | ENSP00000261647.5:n.*51_*54dup | |
| ENST00000465567.1:n.1588_1591dup | ||
| ENST00000470649.1:c.247+871_247+874dup | ENSP00000465627.1:n.247+871_247+874dup | |
| ENST00000475723.5:c.1378_1381dup | ||
| ENST00000481107.1:n.1862_1865dup | ||
| NM_001271420.1:c.*51_*54dup | NP_001258349.1:n.*51_*54dup | |
| NM_017775.3:c.*51_*54dup | NP_060245.3:n.*51_*54dup | |
| XM_017024801.2:c.994+871_994+874dup | XP_016880290.2:n.994+871_994+874dup | |
| XM_017024802.2:c.994+871_994+874dup | XP_016880291.2:n.994+871_994+874dup | |
| NM_017775.4:c.*51_*54dup MANE Select | NP_060245.3:n.*51_*54dup | |
| NM_001271420.2:c.*51_*54dup | NP_001258349.1:n.*51_*54dup |