Linked Data
dbSNP Id:
rs1423035143
gnomAD v2:
15-78894167-CCTT-C
gnomAD v3:
15-78601825-CCTT-C
gnomAD v4:
15-78601825-CCTT-C
COSMIC:
COSM5547245
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78601828_78601830del , CM000677.2:g.78601828_78601830del | GRCh38 |
| NC_000015.9:g.78894170_78894172del , CM000677.1:g.78894170_78894172del | GRCh37 |
| NC_000015.8:g.76681225_76681227del | NCBI36 |
| NG_016143.1:g.24468_24470del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326828.6:c.814_816del MANE Select | ENSP00000315602.5:p.Lys272del | |
| ENST00000326828.5:c.814_816del | ENSP00000315602.5:p.Lys272del | |
| ENST00000348639.7:c.814_816del | ENSP00000267951.4:p.Lys272del | |
| ENST00000558903.1:n.521_523del | ||
| ENST00000559658.5:c.814_816del | ENSP00000452896.1:p.Lys272del | |
| NM_000743.4:c.814_816del | NP_000734.2:p.Lys272del | |
| NM_001166694.1:c.814_816del | NP_001160166.1:p.Lys272del | |
| NR_046313.1:n.1315_1317del | ||
| XM_006720382.1:c.613_615del | XP_006720445.1:p.Lys205del | |
| XM_011521173.1:c.733_735del | XP_011519475.1:p.Lys245del | |
| XM_006720382.3:c.613_615del | XP_006720445.1:p.Lys205del | |
| NM_000743.5:c.814_816del MANE Select | NP_000734.2:p.Lys272del | |
| NM_001166694.2:c.814_816del | NP_001160166.1:p.Lys272del | |
| NR_046313.2:n.1016_1018del |