Linked Data
dbSNP Id:
rs763532071
ExAC:
3:15512131 GAAGGA / G
gnomAD v2:
3-15512131-GAAGGA-G
gnomAD v4:
3-15470624-GAAGGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15470628_15470632del , CM000665.2:g.15470628_15470632del | GRCh38 |
| NC_000003.11:g.15512135_15512139del , CM000665.1:g.15512135_15512139del | GRCh37 |
| NC_000003.10:g.15487139_15487143del | NCBI36 |
| NG_009032.1:g.56123_56127del | |
| NG_009032.2:g.56123_56127del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383788.10:c.637-13_637-9del MANE Select | ENSP00000373298.3:n.637-13_637-9del | |
| ENST00000604401.2:n.633-13_633-9del | ||
| ENST00000679838.1:c.*399-13_*399-9del | ENSP00000505708.1:n.*399-13_*399-9del | |
| ENST00000680545.1:n.403-13_403-9del | ||
| ENST00000681097.1:c.637-13_637-9del | ENSP00000505397.1:n.637-13_637-9del | |
| ENST00000383781.8:c.607-13_607-9del | ENSP00000373291.3:n.607-13_607-9del | |
| ENST00000383786.9:c.535-13_535-9del | ENSP00000373296.3:n.535-13_535-9del | |
| ENST00000383788.9:c.637-13_637-9del | ENSP00000373298.3:n.637-13_637-9del | |
| ENST00000603808.5:c.637-13_637-9del | ENSP00000474271.1:n.637-13_637-9del | |
| ENST00000605797.1:c.466-13_466-9del | ENSP00000474936.1:n.466-13_466-9del | |
| NM_005677.3:c.637-13_637-9del | NP_005668.2:n.637-13_637-9del | |
| NM_080538.2:c.607-13_607-9del | NP_536799.1:n.607-13_607-9del | |
| NM_080539.3:c.535-13_535-9del | NP_536800.2:n.535-13_535-9del | |
| NM_005677.4:c.637-13_637-9del MANE Select | NP_005668.2:n.637-13_637-9del | |
| NM_080539.4:c.535-13_535-9del | NP_536800.2:n.535-13_535-9del |