Linked Data
ClinVar Variation Id:
541719
ClinVar RCV Id:
RCV000652037
dbSNP Id:
rs1555528367
gnomAD v4:
17-7222246-CGTGAAGGAGAAGATCACAGCTTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222250_7222273del , CM000679.2:g.7222250_7222273del | GRCh38 |
| NC_000017.10:g.7125569_7125592del , CM000679.1:g.7125569_7125592del | GRCh37 |
| NC_000017.9:g.7066293_7066316del | NCBI36 |
| NG_007975.1:g.7417_7440del | |
| NG_008391.2:g.2781_2804del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.826_849del MANE Select | ENSP00000349297.5:p.Lys276_Val283del | |
| ENST00000322910.9:c.*781_*804del | ENSP00000325395.5:n.*781_*804del | |
| ENST00000350303.9:c.760_783del | ENSP00000344152.5:p.Lys254_Val261del | |
| ENST00000356839.9:c.826_849del | ENSP00000349297.5:p.Lys276_Val283del | |
| ENST00000543245.6:c.895_918del | ENSP00000438689.2:p.Lys299_Val306del | |
| ENST00000577191.5:n.998_1021del | ||
| ENST00000581378.5:c.544_567del | ||
| ENST00000582379.1:n.210_233del | ||
| NM_000018.3:c.826_849del | NP_000009.1:p.Lys276_Val283del | |
| NM_001033859.2:c.760_783del | NP_001029031.1:p.Lys254_Val261del | |
| NM_001270447.1:c.895_918del | NP_001257376.1:p.Lys299_Val306del | |
| NM_001270448.1:c.598_621del | NP_001257377.1:p.Lys200_Val207del | |
| XM_006721516.2:c.826_849del | XP_006721579.2:p.Lys276_Val283del | |
| XM_011523829.1:c.826_849del | XP_011522131.1:p.Lys276_Val283del | |
| XM_011523830.1:c.826_849del | XP_011522132.1:p.Lys276_Val283del | |
| XR_934021.1:n.933_956del | ||
| XR_934022.1:n.933_956del | ||
| XR_934023.1:n.933_956del | ||
| XM_006721516.3:c.826_849del | XP_006721579.2:p.Lys276_Val283del | |
| XM_011523829.2:c.826_849del | XP_011522131.1:p.Lys276_Val283del | |
| XM_011523830.2:c.826_849del | XP_011522132.1:p.Lys276_Val283del | |
| XM_024450741.1:c.826_849del | XP_024306509.1:p.Lys276_Val283del | |
| XR_934021.2:n.885_908del | ||
| XR_934022.2:n.885_908del | ||
| XR_934023.2:n.885_908del | ||
| NM_000018.4:c.826_849del MANE Select | NP_000009.1:p.Lys276_Val283del | |
| NM_001033859.3:c.760_783del | NP_001029031.1:p.Lys254_Val261del | |
| NM_001270447.2:c.895_918del | NP_001257376.1:p.Lys299_Val306del | |
| NM_001270448.2:c.598_621del | NP_001257377.1:p.Lys200_Val207del |