Linked Data
dbSNP Id:
rs759512269
ExAC:
16:16263613 AAGG / A
gnomAD v2:
16-16263613-AAGG-A
gnomAD v4:
16-16169756-AAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169760_16169762del , CM000678.2:g.16169760_16169762del | GRCh38 |
| NC_000016.9:g.16263617_16263619del , CM000678.1:g.16263617_16263619del | GRCh37 |
| NC_000016.8:g.16171118_16171120del | NCBI36 |
| NG_007558.2:g.58713_58715del | |
| NG_007558.3:g.58859_58861del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2882_2884del | ENSP00000483331.2:p.Ser961del | |
| ENST00000205557.12:c.2882_2884del MANE Select | ENSP00000205557.7:p.Ser961del | |
| ENST00000205557.11:c.2882_2884del | ENSP00000205557.7:p.Ser961del | |
| ENST00000456970.6:c.2707_2709del | ENSP00000405002.2:n.2707_2709del | |
| ENST00000622290.4:c.*91_*93del | ENSP00000483331.1:n.*91_*93del | |
| NM_001171.5:c.2882_2884del | NP_001162.4:p.Ser961del | |
| XM_011522479.1:c.2849_2851del | XP_011520781.1:p.Ser950del | |
| XM_011522480.1:c.2540_2542del | XP_011520782.1:p.Ser847del | |
| XM_011522481.1:c.2540_2542del | XP_011520783.1:p.Ser847del | |
| XR_932836.1:n.3117_3119del | ||
| XR_932837.1:n.3118_3120del | ||
| XR_932838.1:n.3118_3120del | ||
| NM_001351800.1:c.2540_2542del | NP_001338729.1:p.Ser847del | |
| NR_147784.1:n.2744_2746del | ||
| XM_011522479.2:c.2849_2851del | XP_011520781.1:p.Ser950del | |
| XM_011522481.3:c.2540_2542del | XP_011520783.1:p.Ser847del | |
| XM_017023212.1:c.2714_2716del | XP_016878701.1:p.Ser905del | |
| XM_017023214.1:c.2882_2884del | XP_016878703.1:p.Ser961del | |
| XM_024450261.1:c.2918_2920del | XP_024306029.1:p.Ser973del | |
| XR_932836.2:n.3063_3065del | ||
| XR_932837.3:n.3063_3065del | ||
| XR_932838.3:n.3063_3065del | ||
| NM_001171.6:c.2882_2884del MANE Select | NP_001162.5:p.Ser961del |