Linked Data
dbSNP Id:
rs1307251380
gnomAD v2:
15-66777603-GCTGATTCTCTGTACATTCTGCCAAGA-G
gnomAD v3:
15-66485265-GCTGATTCTCTGTACATTCTGCCAAGA-G
gnomAD v4:
15-66485265-GCTGATTCTCTGTACATTCTGCCAAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66485278_66485303del , CM000677.2:g.66485278_66485303del | GRCh38 |
| NC_000015.9:g.66777616_66777641del , CM000677.1:g.66777616_66777641del | GRCh37 |
| NC_000015.8:g.64564670_64564695del | NCBI36 |
| NG_008305.1:g.103406_103431del , LRG_725:g.103406_103431del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.628-1950_628-1925del | ENSP00000508681.1:n.628-1950_628-1925del | |
| ENST00000685172.1:c.895+87_895+112del | ENSP00000509604.1:n.895+87_895+112del | |
| ENST00000685763.1:c.748+87_748+112del | ENSP00000509016.1:n.748+87_748+112del | |
| ENST00000686347.1:c.569-1950_569-1925del | ENSP00000509027.1:n.569-1950_569-1925del | |
| ENST00000687191.1:n.1253+87_1253+112del | ||
| ENST00000687481.1:n.310+87_310+112del | ||
| ENST00000689951.1:c.946+87_946+112del | ENSP00000509308.1:n.946+87_946+112del | |
| ENST00000691077.1:c.*132+87_*132+112del | ENSP00000509843.1:n.*132+87_*132+112del | |
| ENST00000691576.1:c.766+87_766+112del | ENSP00000510066.1:n.766+87_766+112del | |
| ENST00000691937.1:c.895+87_895+112del | ENSP00000508768.1:n.895+87_895+112del | |
| ENST00000692487.1:c.*132+87_*132+112del | ENSP00000509534.1:n.*132+87_*132+112del | |
| ENST00000692683.1:c.829+87_829+112del | ENSP00000508437.1:n.829+87_829+112del | |
| ENST00000693150.1:c.751+87_751+112del | ENSP00000510309.1:n.751+87_751+112del | |
| ENST00000307102.10:c.895+87_895+112del MANE Select | ENSP00000302486.5:n.895+87_895+112del | |
| ENST00000307102.9:c.895+87_895+112del | ENSP00000302486.4:n.895+87_895+112del | |
| ENST00000566326.1:c.367+87_367+112del | ENSP00000456438.1:n.367+87_367+112del | |
| NM_002755.3:c.895+87_895+112del , LRG_725t1:c.895+87_895+112del | NP_002746.1:n.895+87_895+112del | |
| XM_011521783.1:c.829+87_829+112del | XP_011520085.1:n.829+87_829+112del | |
| XM_011521783.3:c.829+87_829+112del | XP_011520085.1:n.829+87_829+112del | |
| XM_017022411.2:c.817+87_817+112del | XP_016877900.1:n.817+87_817+112del | |
| XM_017022412.1:c.751+87_751+112del | XP_016877901.1:n.751+87_751+112del | |
| XM_017022413.1:c.367+87_367+112del | XP_016877902.1:n.367+87_367+112del | |
| NM_002755.4:c.895+87_895+112del MANE Select | NP_002746.1:n.895+87_895+112del |