Linked Data
dbSNP Id:
rs1379917340
gnomAD v2:
15-66777486-TGAGACCCCACCCAGGCCAAGGACCCCCGG-T
gnomAD v4:
15-66485148-TGAGACCCCACCCAGGCCAAGGACCCCCGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66485152_66485180del , CM000677.2:g.66485152_66485180del | GRCh38 |
| NC_000015.9:g.66777490_66777518del , CM000677.1:g.66777490_66777518del | GRCh37 |
| NC_000015.8:g.64564544_64564572del | NCBI36 |
| NG_008305.1:g.103280_103308del , LRG_725:g.103280_103308del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684779.1:c.628-2076_628-2048del | ENSP00000508681.1:n.628-2076_628-2048del | |
| ENST00000685172.1:c.856_884del | ENSP00000509604.1:p.Thr286AlafsTer3 | |
| ENST00000685763.1:c.709_737del | ENSP00000509016.1:p.Thr237AlafsTer3 | |
| ENST00000686347.1:c.569-2076_569-2048del | ENSP00000509027.1:n.569-2076_569-2048del | |
| ENST00000687191.1:n.1214_1242del | ||
| ENST00000687481.1:n.271_299del | ||
| ENST00000689951.1:c.907_935del | ENSP00000509308.1:p.Thr303AlafsTer3 | |
| ENST00000691077.1:c.*93_*121del | ENSP00000509843.1:n.*93_*121del | |
| ENST00000691576.1:c.727_755del | ENSP00000510066.1:p.Thr243AlafsTer3 | |
| ENST00000691937.1:c.856_884del | ENSP00000508768.1:p.Thr286AlafsTer3 | |
| ENST00000692487.1:c.*93_*121del | ENSP00000509534.1:n.*93_*121del | |
| ENST00000692683.1:c.790_818del | ENSP00000508437.1:p.Thr264AlafsTer3 | |
| ENST00000693150.1:c.712_740del | ENSP00000510309.1:p.Thr238AlafsTer3 | |
| ENST00000307102.10:c.856_884del MANE Select | ENSP00000302486.5:p.Thr286AlafsTer3 | |
| ENST00000307102.9:c.856_884del | ENSP00000302486.4:p.Thr286AlafsTer3 | |
| ENST00000566326.1:c.328_356del | ENSP00000456438.1:p.Thr110AlafsTer3 | |
| NM_002755.3:c.856_884del , LRG_725t1:c.856_884del | NP_002746.1:p.Thr286AlafsTer3 | |
| XM_011521783.1:c.790_818del | XP_011520085.1:p.Thr264AlafsTer3 | |
| XM_011521783.3:c.790_818del | XP_011520085.1:p.Thr264AlafsTer3 | |
| XM_017022411.2:c.778_806del | XP_016877900.1:p.Thr260AlafsTer3 | |
| XM_017022412.1:c.712_740del | XP_016877901.1:p.Thr238AlafsTer3 | |
| XM_017022413.1:c.328_356del | XP_016877902.1:p.Thr110AlafsTer3 | |
| NM_002755.4:c.856_884del MANE Select | NP_002746.1:p.Thr286AlafsTer3 |