Linked Data
ClinVar Variation Id:
371620
ClinVar RCV Id:
RCV000411060
dbSNP Id:
rs1057517416
gnomAD v4:
17-7223167-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223168del , CM000679.2:g.7223168del | GRCh38 |
| NC_000017.10:g.7126487del , CM000679.1:g.7126487del | GRCh37 |
| NC_000017.9:g.7067211del | NCBI36 |
| NG_007975.1:g.8335del | |
| NG_008391.2:g.1883del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1113del MANE Select | ENSP00000349297.5:p.Ile373PhefsTer6 | |
| ENST00000322910.9:c.*1068del | ENSP00000325395.5:n.*1068del | |
| ENST00000350303.9:c.1047del | ENSP00000344152.5:p.Ile351PhefsTer6 | |
| ENST00000356839.9:c.1113del | ENSP00000349297.5:p.Ile373PhefsTer6 | |
| ENST00000543245.6:c.1182del | ENSP00000438689.2:p.Ile396PhefsTer6 | |
| ENST00000578579.2:n.62del | ||
| ENST00000578824.5:n.529del | ||
| ENST00000579425.5:n.137del | ||
| ENST00000582379.1:n.764del | ||
| ENST00000583858.5:c.142del | ||
| ENST00000585203.6:n.321del | ||
| NM_000018.3:c.1113del | NP_000009.1:p.Ile373PhefsTer6 | |
| NM_001033859.2:c.1047del | NP_001029031.1:p.Ile351PhefsTer6 | |
| NM_001270447.1:c.1182del | NP_001257376.1:p.Ile396PhefsTer6 | |
| NM_001270448.1:c.885del | NP_001257377.1:p.Ile297PhefsTer6 | |
| XM_006721516.2:c.1113del | XP_006721579.2:p.Ile373PhefsTer6 | |
| XM_011523829.1:c.1113del | XP_011522131.1:p.Ile373PhefsTer6 | |
| XM_011523830.1:c.1113del | XP_011522132.1:p.Ile373PhefsTer6 | |
| XR_934021.1:n.1220del | ||
| XR_934022.1:n.1220del | ||
| XR_934023.1:n.1220del | ||
| XM_006721516.3:c.1113del | XP_006721579.2:p.Ile373PhefsTer6 | |
| XM_011523829.2:c.1113del | XP_011522131.1:p.Ile373PhefsTer6 | |
| XM_011523830.2:c.1113del | XP_011522132.1:p.Ile373PhefsTer6 | |
| XM_024450741.1:c.1113del | XP_024306509.1:p.Ile373PhefsTer6 | |
| XR_934021.2:n.1172del | ||
| XR_934022.2:n.1172del | ||
| XR_934023.2:n.1172del | ||
| NM_000018.4:c.1113del MANE Select | NP_000009.1:p.Ile373PhefsTer6 | |
| NM_001033859.3:c.1047del | NP_001029031.1:p.Ile351PhefsTer6 | |
| NM_001270447.2:c.1182del | NP_001257376.1:p.Ile396PhefsTer6 | |
| NM_001270448.2:c.885del | NP_001257377.1:p.Ile297PhefsTer6 |