Linked Data
dbSNP Id:
rs759004005
ExAC:
16:56903697 TC / T
gnomAD v2:
16-56903697-TC-T
gnomAD v3:
16-56869785-TC-T
gnomAD v4:
16-56869785-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56869787del , CM000678.2:g.56869787del | GRCh38 |
| NC_000016.9:g.56903699del , CM000678.1:g.56903699del | GRCh37 |
| NC_000016.8:g.55461200del | NCBI36 |
| NG_009386.1:g.9581del | |
| NG_009386.2:g.9581del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.564del MANE Select | ENSP00000456149.2:p.Ile189SerfsTer? | |
| ENST00000262502.5:c.561del | ENSP00000262502.5:p.Ile188SerfsTer? | |
| ENST00000438926.6:c.564del | ENSP00000402152.2:p.Ile189SerfsTer? | |
| ENST00000563236.5:c.564del | ENSP00000456149.1:p.Ile189SerfsTer? | |
| ENST00000566786.5:c.561del | ENSP00000457552.1:p.Ile188SerfsTer? | |
| NM_000339.2:c.564del | NP_000330.2:p.Ile189SerfsTer? | |
| NM_001126107.1:c.561del | NP_001119579.1:p.Ile188SerfsTer? | |
| NM_001126108.1:c.564del | NP_001119580.1:p.Ile189SerfsTer? | |
| XM_005256119.1:c.561del | XP_005256176.1:p.Ile188SerfsTer? | |
| XM_005256119.2:c.561del | XP_005256176.1:p.Ile188SerfsTer? | |
| NM_000339.3:c.564del | NP_000330.3:p.Ile189SerfsTer? | |
| NM_001126107.2:c.561del | NP_001119579.2:p.Ile188SerfsTer? | |
| NM_001126108.2:c.564del MANE Select | NP_001119580.2:p.Ile189SerfsTer? |