Linked Data
dbSNP Id:
rs752529936
ExAC:
8:18257837 TCTC / T
gnomAD v2:
8-18257837-TCTC-T
gnomAD v4:
8-18400327-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400330_18400332del , CM000670.2:g.18400330_18400332del | GRCh38 |
| NC_000008.10:g.18257840_18257842del , CM000670.1:g.18257840_18257842del | GRCh37 |
| NC_000008.9:g.18302120_18302122del | NCBI36 |
| NG_012246.1:g.14086_14088del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.327_329del MANE Select | ENSP00000286479.3:p.Leu110del | |
| ENST00000286479.3:c.327_329del | ENSP00000286479.3:p.Leu110del | |
| ENST00000520116.1:c.-57-7_-57-5del | ENSP00000428416.1:n.-57-7_-57-5del | |
| NM_000015.2:c.327_329del | NP_000006.2:p.Leu110del | |
| XM_011544358.1:c.327_329del | XP_011542660.1:p.Leu110del | |
| XM_017012938.1:c.327_329del | XP_016868427.1:p.Leu110del | |
| NM_000015.3:c.327_329del MANE Select | NP_000006.2:p.Leu110del |