Linked Data
dbSNP Id:
rs2042872758
gnomAD v3:
15-73323072-CACAAGGG-C
gnomAD v4:
15-73323072-CACAAGGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323075_73323081del , CM000677.2:g.73323075_73323081del | GRCh38 |
| NC_000015.9:g.73615416_73615422del , CM000677.1:g.73615416_73615422del | GRCh37 |
| NC_000015.8:g.71402469_71402475del | NCBI36 |
| NG_009063.1:g.51186_51192del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3014_3020del MANE Select | ENSP00000261917.3:p.Ser1005TrpfsTer11 | |
| ENST00000261917.3:c.3014_3020del | ENSP00000261917.3:p.Ser1005TrpfsTer11 | |
| NM_005477.2:c.3014_3020del | NP_005468.1:p.Ser1005TrpfsTer11 | |
| XM_011521148.1:c.1796_1802del | XP_011519450.1:p.Ser599TrpfsTer11 | |
| XM_011521148.2:c.1796_1802del | XP_011519450.1:p.Ser599TrpfsTer11 | |
| NM_005477.3:c.3014_3020del MANE Select | NP_005468.1:p.Ser1005TrpfsTer11 |