Linked Data
dbSNP Id:
rs1892369723
gnomAD v3:
14-77327303-TGGGAGACTGCATGGATCCCCCAGGGATTA-T
gnomAD v4:
14-77327303-TGGGAGACTGCATGGATCCCCCAGGGATTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77327304_77327332del , CM000676.2:g.77327304_77327332del | GRCh38 |
| NC_000014.8:g.77793647_77793675del , CM000676.1:g.77793647_77793675del | GRCh37 |
| NC_000014.7:g.76863400_76863428del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216465.10:c.136-168_136-140del MANE Select | ENSP00000216465.5:n.136-168_136-140del | |
| ENST00000216465.9:c.136-168_136-140del | ENSP00000216465.5:n.136-168_136-140del | |
| ENST00000349555.7:c.136-168_136-140del | ENSP00000314404.5:n.136-168_136-140del | |
| ENST00000361389.8:c.-30-168_-30-140del | ENSP00000354959.4:n.-30-168_-30-140del | |
| ENST00000393734.5:c.-30-168_-30-140del | ENSP00000377335.1:n.-30-168_-30-140del | |
| ENST00000553431.5:n.267-168_267-140del | ||
| ENST00000553586.5:c.139-168_139-140del | ENSP00000451976.1:n.139-168_139-140del | |
| ENST00000553838.5:n.306-168_306-140del | ||
| ENST00000554279.5:c.136-168_136-140del | ENSP00000452498.1:n.136-168_136-140del | |
| ENST00000554846.5:c.-30-168_-30-140del | ENSP00000452531.1:n.-30-168_-30-140del | |
| ENST00000555093.1:n.4185-168_4185-140del | ||
| ENST00000555583.1:c.-30-168_-30-140del | ENSP00000452346.1:n.-30-168_-30-140del | |
| ENST00000556627.5:c.135+399_135+427del | ENSP00000450487.1:n.135+399_135+427del | |
| ENST00000556914.5:n.216-168_216-140del | ||
| ENST00000557053.5:c.-30-168_-30-140del | ENSP00000451150.1:n.-30-168_-30-140del | |
| ENST00000557639.5:c.-30-168_-30-140del | ENSP00000451927.1:n.-30-168_-30-140del | |
| NM_001312660.1:c.-30-168_-30-140del | NP_001299589.1:n.-30-168_-30-140del | |
| NM_001513.3:c.-30-168_-30-140del | NP_001504.2:n.-30-168_-30-140del | |
| NM_145870.2:c.136-168_136-140del | NP_665877.1:n.136-168_136-140del | |
| NM_145871.2:c.136-168_136-140del | NP_665878.2:n.136-168_136-140del | |
| XM_005267559.2:c.-30-168_-30-140del | XP_005267616.1:n.-30-168_-30-140del | |
| XM_011536670.1:c.-341-168_-341-140del | XP_011534972.1:n.-341-168_-341-140del | |
| XM_011536671.1:c.139-168_139-140del | XP_011534973.1:n.139-168_139-140del | |
| NM_001363703.1:c.139-168_139-140del | NP_001350632.1:n.139-168_139-140del | |
| XM_011536670.2:c.-341-168_-341-140del | XP_011534972.1:n.-341-168_-341-140del | |
| XM_011536671.2:c.139-168_139-140del | XP_011534973.1:n.139-168_139-140del | |
| XM_024449549.1:c.-341-168_-341-140del | XP_024305317.1:n.-341-168_-341-140del | |
| XM_024449550.1:c.-30-168_-30-140del | XP_024305318.1:n.-30-168_-30-140del | |
| XM_024449551.1:c.-30-168_-30-140del | XP_024305319.1:n.-30-168_-30-140del | |
| XM_024449552.1:c.-30-168_-30-140del | XP_024305320.1:n.-30-168_-30-140del | |
| NM_145870.3:c.136-168_136-140del MANE Select | NP_665877.1:n.136-168_136-140del | |
| NM_001312660.2:c.-30-168_-30-140del | NP_001299589.1:n.-30-168_-30-140del | |
| NM_001363703.2:c.139-168_139-140del | NP_001350632.1:n.139-168_139-140del | |
| NM_145871.3:c.136-168_136-140del | NP_665878.2:n.136-168_136-140del |