Linked Data
dbSNP Id:
rs1840061710
gnomAD v3:
10-72007914-CGCGTCATCCA-C
gnomAD v4:
10-72007914-CGCGTCATCCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72007917_72007926del , CM000672.2:g.72007917_72007926del | GRCh38 |
| NC_000010.10:g.73767675_73767684del , CM000672.1:g.73767675_73767684del | GRCh37 |
| NC_000010.9:g.73437681_73437690del | NCBI36 |
| NG_012635.1:g.48556_48565del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.886_895del MANE Select | ENSP00000362207.4:p.Val296TrpfsTer? | |
| ENST00000373115.4:c.886_895del | ENSP00000362207.4:p.Val296TrpfsTer? | |
| NM_004273.4:c.886_895del | NP_004264.2:p.Val296TrpfsTer? | |
| XM_006718075.2:c.886_895del | XP_006718138.1:p.Val296TrpfsTer? | |
| XM_011540369.1:c.886_895del | XP_011538671.1:p.Val296TrpfsTer? | |
| XM_006718075.4:c.886_895del | XP_006718138.1:p.Val296TrpfsTer? | |
| XM_011540369.2:c.886_895del | XP_011538671.1:p.Val296TrpfsTer? | |
| NM_004273.5:c.886_895del MANE Select | NP_004264.2:p.Val296TrpfsTer? |