Linked Data
dbSNP Id:
rs763693786
gnomAD v2:
15-73615125-TCTGCGGAGAGTCTGCGCC-T
gnomAD v4:
15-73322784-TCTGCGGAGAGTCTGCGCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322786_73322803del , CM000677.2:g.73322786_73322803del | GRCh38 |
| NC_000015.9:g.73615127_73615144del , CM000677.1:g.73615127_73615144del | GRCh37 |
| NC_000015.8:g.71402180_71402197del | NCBI36 |
| NG_009063.1:g.51463_51480del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3291_3308del MANE Select | ENSP00000261917.3:p.Ala1098_Arg1103del | |
| ENST00000261917.3:c.3291_3308del | ENSP00000261917.3:p.Ala1098_Arg1103del | |
| NM_005477.2:c.3291_3308del | NP_005468.1:p.Ala1098_Arg1103del | |
| XM_011521148.1:c.2073_2090del | XP_011519450.1:p.Ala692_Arg697del | |
| XM_011521148.2:c.2073_2090del | XP_011519450.1:p.Ala692_Arg697del | |
| NM_005477.3:c.3291_3308del MANE Select | NP_005468.1:p.Ala1098_Arg1103del |