Linked Data
dbSNP Id:
rs1268477014
gnomAD v2:
11-66328207-TCAACAC-T
gnomAD v4:
11-66560736-TCAACAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66560740_66560745del , CM000673.2:g.66560740_66560745del | GRCh38 |
| NC_000011.9:g.66328211_66328216del , CM000673.1:g.66328211_66328216del | GRCh37 |
| NC_000011.8:g.66084787_66084792del | NCBI36 |
| NG_013304.2:g.18821_18826del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513398.2:c.1845_1850del MANE Select | ENSP00000426797.1:p.Asn615_Thr616del | |
| ENST00000502692.5:c.1974_1979del | ENSP00000422007.1:p.Asn658_Thr659del | |
| ENST00000513398.1:c.1845_1850del | ENSP00000426797.1:p.Asn615_Thr616del | |
| NM_001104.3:c.1845_1850del | NP_001095.2:p.Asn615_Thr616del | |
| NM_001258371.2:c.1974_1979del | NP_001245300.2:p.Asn658_Thr659del | |
| NM_001104.4:c.1845_1850del MANE Select | NP_001095.2:p.Asn615_Thr616del | |
| NM_001258371.3:c.1974_1979del | NP_001245300.2:p.Asn658_Thr659del |