Linked Data
ClinVar Variation Id:
510637
dbSNP Id:
rs755935820
ExAC:
16:89998959 CT / C
gnomAD v2:
16-89998959-CT-C
gnomAD v3:
16-89932551-CT-C
gnomAD v4:
16-89932551-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89932552del , CM000678.2:g.89932552del | GRCh38 |
| NC_000016.9:g.89998960del , CM000678.1:g.89998960del | GRCh37 |
| NC_000016.8:g.88526461del | NCBI36 |
| NG_027810.1:g.15544del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315491.12:c.58-19del MANE Select | ENSP00000320295.7:n.58-19del | |
| ENST00000680647.1:n.2288del | ||
| ENST00000680788.1:n.3460del | ||
| ENST00000315491.11:c.58-19del | ENSP00000320295.7:n.58-19del | |
| ENST00000553656.5:c.*41-19del | ENSP00000452001.1:n.*41-19del | |
| ENST00000553967.1:c.58-19del | ENSP00000450765.1:n.58-19del | |
| ENST00000554336.5:c.58-19del | ENSP00000450822.1:n.58-19del | |
| ENST00000554444.5:c.-159-19del | ENSP00000451617.1:n.-159-19del | |
| ENST00000554927.1:n.115-19del | ||
| ENST00000555576.5:c.58-19del | ENSP00000452554.1:n.58-19del | |
| ENST00000555609.5:c.58-19del | ENSP00000451276.1:n.58-19del | |
| ENST00000555810.5:c.-159-19del | ENSP00000450538.1:n.-159-19del | |
| ENST00000556536.5:c.58-19del | ENSP00000451378.1:n.58-19del | |
| ENST00000556565.5:c.-159-19del | ENSP00000452166.1:n.-159-19del | |
| ENST00000556922.1:c.1099-19del | ENSP00000451560.1:n.1099-19del | |
| ENST00000557262.5:c.*41-19del | ENSP00000451985.1:n.*41-19del | |
| ENST00000557490.5:c.58-19del | ENSP00000451465.1:n.58-19del | |
| ENST00000625617.2:c.58-19del | ENSP00000485859.1:n.58-19del | |
| NM_001197181.1:c.-159-19del | NP_001184110.1:n.-159-19del | |
| NM_006086.3:c.58-19del | NP_006077.2:n.58-19del | |
| NM_006086.4:c.58-19del MANE Select | NP_006077.2:n.58-19del | |
| NM_001197181.2:c.-159-19del | NP_001184110.1:n.-159-19del |