Linked Data
dbSNP Id:
rs781092165
ExAC:
9:95481114 TGTCCCC / T
gnomAD v2:
9-95481114-TGTCCCC-T
gnomAD v4:
9-92718832-TGTCCCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92718833_92718838del , CM000671.2:g.92718833_92718838del | GRCh38 |
| NC_000009.11:g.95481115_95481120del , CM000671.1:g.95481115_95481120del | GRCh37 |
| NC_000009.10:g.94520936_94520941del | NCBI36 |
| NG_033908.1:g.50964_50969del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.1807_1812del MANE Select | ENSP00000349351.6:p.Gly603_Asp604del | |
| ENST00000356884.10:c.1807_1812del | ENSP00000349351.6:p.Gly603_Asp604del | |
| ENST00000375512.3:c.1807_1812del | ENSP00000364662.3:p.Gly603_Asp604del | |
| NM_001003800.1:c.1807_1812del | NP_001003800.1:p.Gly603_Asp604del | |
| NM_015250.3:c.1807_1812del | NP_056065.1:p.Gly603_Asp604del | |
| XM_017014551.1:c.1888_1893del | XP_016870040.1:p.Gly630_Asp631del | |
| NM_001003800.2:c.1807_1812del MANE Select | NP_001003800.1:p.Gly603_Asp604del | |
| NM_015250.4:c.1807_1812del | NP_056065.1:p.Gly603_Asp604del |