Linked Data
dbSNP Id:
rs1653117073
gnomAD v3:
1-67259312-ATAAGCATATGTTTC-A
gnomAD v4:
1-67259312-ATAAGCATATGTTTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67259313_67259326del , CM000663.2:g.67259313_67259326del | GRCh38 |
| NC_000001.10:g.67724996_67725009del , CM000663.1:g.67724996_67725009del | GRCh37 |
| NC_000001.9:g.67497584_67497597del | NCBI36 |
| NG_011498.1:g.97828_97841del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347310.10:c.*185_*198del MANE Select | ENSP00000321345.5:n.*185_*198del | |
| ENST00000347310.9:c.*185_*198del | ENSP00000321345.5:n.*185_*198del | |
| ENST00000395227.2:c.*185_*198del | ENSP00000378652.2:n.*185_*198del | |
| ENST00000473881.2:c.*901_*914del | ENSP00000486667.1:n.*901_*914del | |
| NM_144701.2:c.*185_*198del | NP_653302.2:n.*185_*198del | |
| XM_005270516.2:c.*185_*198del | XP_005270573.1:n.*185_*198del | |
| XM_011540789.1:c.*185_*198del | XP_011539091.1:n.*185_*198del | |
| XM_011540790.1:c.*185_*198del | XP_011539092.1:n.*185_*198del | |
| XM_011540791.1:c.*185_*198del | XP_011539093.1:n.*185_*198del | |
| XM_011540790.3:c.*185_*198del | XP_011539092.1:n.*185_*198del | |
| XM_011540791.3:c.*185_*198del | XP_011539093.1:n.*185_*198del | |
| NM_144701.3:c.*185_*198del MANE Select | NP_653302.2:n.*185_*198del |