Linked Data
dbSNP Id:
rs869289709
gnomAD v2:
17-7521782-GTTTTTGT-G
gnomAD v3:
17-7618464-GTTTTTGT-G
gnomAD v4:
17-7618464-GTTTTTGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7618470_7618476del , CM000679.2:g.7618470_7618476del | GRCh38 |
| NC_000017.10:g.7521788_7521794del , CM000679.1:g.7521788_7521794del | GRCh37 |
| NC_000017.9:g.7462513_7462519del | NCBI36 |
| NG_011981.2:g.9407_9413del | |
| NG_028105.1:g.1427_1433del , LRG_285:g.1427_1433del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570547.5:c.-62+4359_-62+4365del | ENSP00000458875.1:n.-62+4359_-62+4365del | |
| ENST00000572182.5:c.-62+4359_-62+4365del | ENSP00000458816.1:n.-62+4359_-62+4365del | |
| ENST00000572262.5:c.-62+4359_-62+4365del | ENSP00000459999.1:n.-62+4359_-62+4365del | |
| ENST00000574539.5:c.-62+4359_-62+4365del | ENSP00000458181.1:n.-62+4359_-62+4365del | |
| ENST00000575314.5:c.-62+4359_-62+4365del | ENSP00000458559.1:n.-62+4359_-62+4365del | |
| ENST00000576478.5:c.-62+4359_-62+4365del | ENSP00000461133.1:n.-62+4359_-62+4365del | |
| ENST00000576728.5:c.-62+4359_-62+4365del | ENSP00000459620.1:n.-62+4359_-62+4365del | |
| NM_001289114.1:c.-62+4359_-62+4365del | NP_001276043.1:n.-62+4359_-62+4365del | |
| NM_001289114.2:c.-62+4359_-62+4365del | NP_001276043.1:n.-62+4359_-62+4365del |