Linked Data
dbSNP Id:
rs1779438237
gnomAD v3:
6-116130711-TCAGGACCA-T
gnomAD v4:
6-116130711-TCAGGACCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116130716_116130723del , CM000668.2:g.116130716_116130723del | GRCh38 |
| NC_000006.11:g.116451879_116451886del , CM000668.1:g.116451879_116451886del | GRCh37 |
| NC_000006.10:g.116558572_116558579del | NCBI36 |
| NG_008032.1:g.415_422del | |
| NG_021351.1:g.34881_34888del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319550.9:c.529+12771_529+12778del (NT5DC1) MANE Select | ENSP00000326858.3:n.529+12771_529+12778del | |
| ENST00000319550.8:c.529+12771_529+12778del (NT5DC1) | ENSP00000326858.3:n.529+12771_529+12778del | |
| ENST00000418500.1:c.-15-5212_-15-5205del (COL10A1) | ENSP00000392712.1:n.-15-5212_-15-5205del | |
| ENST00000419791.3:c.529+12771_529+12778del (NT5DC1) | ENSP00000393578.1:n.529+12771_529+12778del | |
| ENST00000460749.1:c.27+12771_27+12778del (NT5DC1) | ||
| NM_152729.2:c.529+12771_529+12778del (NT5DC1) | NP_689942.2:n.529+12771_529+12778del | |
| XM_006715333.2:c.-15-5212_-15-5205del (COL10A1) | XP_006715396.1:n.-15-5212_-15-5205del | |
| XM_006715377.2:c.529+12771_529+12778del (NT5DC1) | XP_006715440.1:n.529+12771_529+12778del | |
| XM_006715378.2:c.529+12771_529+12778del (NT5DC1) | XP_006715441.1:n.529+12771_529+12778del | |
| XM_011535432.1:c.-15-5212_-15-5205del (COL10A1) | XP_011533734.1:n.-15-5212_-15-5205del | |
| XM_011535433.1:c.-15-5212_-15-5205del (COL10A1) | XP_011533735.1:n.-15-5212_-15-5205del | |
| XM_006715333.3:c.-15-5212_-15-5205del (COL10A1) | XP_006715396.1:n.-15-5212_-15-5205del | |
| XM_006715378.3:c.529+12771_529+12778del (NT5DC1) | XP_006715441.1:n.529+12771_529+12778del | |
| XM_011535432.3:c.-15-5212_-15-5205del (COL10A1) | XP_011533734.1:n.-15-5212_-15-5205del | |
| XM_011535433.3:c.-15-5212_-15-5205del (COL10A1) | XP_011533735.1:n.-15-5212_-15-5205del | |
| NM_152729.3:c.529+12771_529+12778del (NT5DC1) MANE Select | NP_689942.2:n.529+12771_529+12778del |