Linked Data
dbSNP Id:
rs780988687
ExAC:
2:174230973 GGTTTTT / G
gnomAD v2:
2-174230973-GGTTTTT-G
gnomAD v4:
2-173366245-GGTTTTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.173366246_173366251del , CM000664.2:g.173366246_173366251del | GRCh38 |
| NC_000002.11:g.174230974_174230979del , CM000664.1:g.174230974_174230979del | GRCh37 |
| NC_000002.10:g.173939220_173939225del | NCBI36 |
| NG_047202.1:g.17230_17235del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695901.1:c.798+654_798+659del | ENSP00000512251.1:n.798+654_798+659del | |
| ENST00000695911.1:c.814-37_814-32del | ENSP00000512262.1:n.814-37_814-32del | |
| ENST00000695912.1:c.1033-37_1033-32del | ENSP00000512263.1:n.1033-37_1033-32del | |
| ENST00000695913.1:c.*1752_*1757del | ENSP00000512264.1:n.*1752_*1757del | |
| ENST00000695914.1:c.796-37_796-32del | ENSP00000512265.1:n.796-37_796-32del | |
| ENST00000695918.1:n.264-37_264-32del | ||
| ENST00000306721.8:c.1036-37_1036-32del MANE Select | ENSP00000306968.3:n.1036-37_1036-32del | |
| ENST00000306721.7:c.1036-37_1036-32del | ENSP00000306968.3:n.1036-37_1036-32del | |
| ENST00000347703.7:c.799-37_799-32del | ENSP00000272789.4:n.799-37_799-32del | |
| ENST00000410019.3:c.673-37_673-32del | ENSP00000386833.3:n.673-37_673-32del | |
| ENST00000410101.7:c.904-37_904-32del | ENSP00000386656.3:n.904-37_904-32del | |
| ENST00000467411.5:n.1768+654_1768+659del | ||
| ENST00000496441.5:n.1790-37_1790-32del | ||
| NM_031942.4:c.1036-37_1036-32del | NP_114148.3:n.1036-37_1036-32del | |
| NM_145810.2:c.799-37_799-32del | NP_665809.1:n.799-37_799-32del | |
| XM_011511957.1:c.955-37_955-32del | XP_011510259.1:n.955-37_955-32del | |
| XR_923034.1:n.1934-37_1934-32del | ||
| NM_031942.5:c.1036-37_1036-32del MANE Select | NP_114148.3:n.1036-37_1036-32del | |
| NM_145810.3:c.799-37_799-32del | NP_665809.1:n.799-37_799-32del |