Linked Data
dbSNP Id:
rs747674079
ExAC:
16:5078986 TCCG / T
gnomAD v2:
16-5078986-TCCG-T
gnomAD v4:
16-5028985-TCCG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5028988_5028990del , CM000678.2:g.5028988_5028990del | GRCh38 |
| NC_000016.9:g.5078989_5078991del , CM000678.1:g.5078989_5078991del | GRCh37 |
| NC_000016.8:g.5018990_5018992del | NCBI36 |
| NG_028152.1:g.9954_9956del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312251.8:c.812_814del MANE Select | ENSP00000310998.3:p.Ala271del | |
| ENST00000649828.1:c.812_814del | ENSP00000498032.1:p.Ala271del | |
| ENST00000312251.7:c.812_814del | ENSP00000310998.3:p.Ala271del | |
| ENST00000381955.7:c.812_814del | ENSP00000371381.3:p.Ala271del | |
| ENST00000562037.1:c.573_575del | ENSP00000464994.1:n.573_575del | |
| ENST00000562346.2:c.505-803_505-801del | ||
| ENST00000562746.5:c.812_814del | ENSP00000455900.1:p.Ala271del | |
| ENST00000563578.5:c.630_632del | ||
| ENST00000564397.5:n.1171_1173del | ||
| ENST00000565876.5:c.480+1397_480+1399del | ||
| ENST00000567739.5:n.131_133del | ||
| ENST00000568202.5:n.675_677del | ||
| ENST00000569296.5:c.356_358del | ENSP00000465949.1:p.Ala119del | |
| NM_016256.3:c.812_814del | NP_057340.2:p.Ala271del | |
| XM_011522517.1:c.812_814del | XP_011520819.1:p.Ala271del | |
| XM_011522518.1:c.812_814del | XP_011520820.1:p.Ala271del | |
| XM_011522519.1:c.812_814del | XP_011520821.1:p.Ala271del | |
| XR_243285.1:n.839_841del | ||
| XM_011522517.3:c.812_814del | XP_011520819.1:p.Ala271del | |
| XR_001751908.2:n.838_840del | ||
| XR_001751909.2:n.838_840del | ||
| XR_001751910.2:n.838_840del | ||
| XR_001751911.2:n.838_840del | ||
| XR_001751912.2:n.838_840del | ||
| NM_016256.4:c.812_814del MANE Select | NP_057340.2:p.Ala271del |