Linked Data
dbSNP Id:
rs768447523
ExAC:
3:46902261 ATCT / A
gnomAD v2:
3-46902261-ATCT-A
gnomAD v4:
3-46860771-ATCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46860774_46860776del , CM000665.2:g.46860774_46860776del | GRCh38 |
| NC_000003.11:g.46902264_46902266del , CM000665.1:g.46902264_46902266del | GRCh37 |
| NC_000003.10:g.46877268_46877270del | NCBI36 |
| NG_007555.2:g.26396_26398del , LRG_395:g.26396_26398del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431168.2:c.209_211del | ENSP00000393455.2:p.Lys70del | |
| ENST00000292327.6:c.209_211del MANE Select | ENSP00000292327.4:p.Lys70del | |
| ENST00000653454.1:c.209_211del | ENSP00000499624.1:p.Lys70del | |
| ENST00000654597.1:c.209_211del | ENSP00000499406.1:p.Lys70del | |
| ENST00000655244.1:n.431_433del | ||
| ENST00000662933.1:c.209_211del | ENSP00000499577.1:p.Lys70del | |
| ENST00000664891.1:n.167_169del | ||
| ENST00000292327.4:c.209_211del | ENSP00000292327.4:p.Lys70del | |
| ENST00000395869.5:c.209_211del | ENSP00000379210.1:p.Lys70del | |
| NM_000258.2:c.209_211del , LRG_395t1:c.209_211del | NP_000249.1:p.Lys70del | |
| NM_000258.3:c.209_211del MANE Select | NP_000249.1:p.Lys70del |