Linked Data
dbSNP Id:
rs1199928170
gnomAD v3:
17-15999910-GCCGGGGCTGCTCCGCGCGCCTGCTC-G
gnomAD v4:
17-15999910-GCCGGGGCTGCTCCGCGCGCCTGCTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999920_15999944del , CM000679.2:g.15999920_15999944del | GRCh38 |
| NC_000017.10:g.15903234_15903258del , CM000679.1:g.15903234_15903258del | GRCh37 |
| NC_000017.9:g.15843959_15843983del | NCBI36 |
| NG_029806.1:g.5541_5565del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.72_96del MANE Select | ENSP00000261647.5:p.Cys24TrpfsTer? | |
| ENST00000261647.9:c.72_96del | ENSP00000261647.5:p.Cys24TrpfsTer? | |
| ENST00000466729.5:c.137_161del | ||
| ENST00000470399.1:c.87_111del | ENSP00000465082.1:p.Cys29TrpfsTer? | |
| ENST00000475723.5:c.119_143del | ||
| ENST00000497842.6:n.97_121del | ||
| ENST00000583704.1:n.97_121del | ||
| NM_001271420.1:c.-387_-363del | NP_001258349.1:n.-387_-363del | |
| NM_017775.3:c.72_96del | NP_060245.3:p.Cys24TrpfsTer? | |
| XM_011523950.1:c.72_96del | XP_011522252.1:p.Cys24TrpfsTer? | |
| XM_017024801.2:c.72_96del | XP_016880290.2:p.Cys24TrpfsTer? | |
| XM_017024802.2:c.72_96del | XP_016880291.2:p.Cys24TrpfsTer? | |
| XM_024450814.1:c.72_96del | XP_024306582.1:p.Cys24TrpfsTer? | |
| NM_017775.4:c.72_96del MANE Select | NP_060245.3:p.Cys24TrpfsTer? | |
| NM_001271420.2:c.-387_-363del | NP_001258349.1:n.-387_-363del |