Linked Data
dbSNP Id:
rs777111632
gnomAD v2:
X-73641591-AGCCCGAGCCCGTGCCAGTGCCCCC-A
gnomAD v4:
X-74421756-AGCCCGAGCCCGTGCCAGTGCCCCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74421767_74421790del , CM000685.2:g.74421767_74421790del | GRCh38 |
| NC_000023.10:g.73641602_73641625del , CM000685.1:g.73641602_73641625del | GRCh37 |
| NC_000023.9:g.73558327_73558350del | NCBI36 |
| NG_011641.1:g.5518_5541del | |
| NG_011641.2:g.5518_5541del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.130_153del MANE Select | ENSP00000465734.1:p.Val44_Pro51del | |
| ENST00000587091.5:c.130_153del | ENSP00000465734.1:p.Val44_Pro51del | |
| NM_006517.4:c.130_153del | NP_006508.2:p.Val44_Pro51del | |
| XM_005262294.1:c.130_153del | XP_005262351.1:p.Val44_Pro51del | |
| XM_011531015.1:c.130_153del | XP_011529317.1:p.Val44_Pro51del | |
| NM_006517.5:c.130_153del MANE Select | NP_006508.2:p.Val44_Pro51del |