Linked Data
ClinVar Variation Id:
676542
ClinVar RCV Id:
RCV000835981
dbSNP Id:
rs141351703
gnomAD v2:
2-215645177-GAAAGGTTA-G
gnomAD v3:
2-214780453-GAAAGGTTA-G
gnomAD v4:
2-214780453-GAAAGGTTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214780455_214780462del , CM000664.2:g.214780455_214780462del | GRCh38 |
| NC_000002.11:g.215645179_215645186del , CM000664.1:g.215645179_215645186del | GRCh37 |
| NC_000002.10:g.215353424_215353431del | NCBI36 |
| NG_012047.2:g.34244_34251del | |
| NG_012047.3:g.34251_34258del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1314+99_1314+106del MANE Select | ENSP00000260947.4:n.1314+99_1314+106del | |
| ENST00000421162.2:c.215+16600_215+16607del | ENSP00000392245.2:n.215+16600_215+16607del | |
| ENST00000613192.2:c.158+28951_158+28958del | ENSP00000483275.2:n.158+28951_158+28958del | |
| ENST00000613374.5:c.159-27906_159-27899del | ENSP00000484464.1:n.159-27906_159-27899del | |
| ENST00000613706.5:c.906+507_906+514del | ENSP00000484976.2:n.906+507_906+514del | |
| ENST00000617164.5:c.1257+99_1257+106del | ENSP00000480470.1:n.1257+99_1257+106del | |
| ENST00000619009.5:c.364+11836_364+11843del | ENSP00000482293.1:n.364+11836_364+11843del | |
| ENST00000650978.1:c.1156+99_1156+106del | ||
| ENST00000260947.8:c.1314+99_1314+106del | ENSP00000260947.4:n.1314+99_1314+106del | |
| ENST00000421162.1:c.215+16600_215+16607del | ENSP00000392245.1:n.215+16600_215+16607del | |
| ENST00000455743.5:c.*934+99_*934+106del | ENSP00000412186.1:n.*934+99_*934+106del | |
| ENST00000613192.1:c.73+28951_73+28958del | ENSP00000483275.1:n.73+28951_73+28958del | |
| ENST00000613374.4:c.159-27906_159-27899del | ENSP00000484464.1:n.159-27906_159-27899del | |
| ENST00000613706.4:c.215+16600_215+16607del | ENSP00000484976.1:n.215+16600_215+16607del | |
| ENST00000617164.4:c.1257+99_1257+106del | ENSP00000480470.1:n.1257+99_1257+106del | |
| ENST00000619009.4:c.364+11836_364+11843del | ENSP00000482293.1:n.364+11836_364+11843del | |
| ENST00000620057.4:c.365-11149_365-11142del | ENSP00000481988.1:n.365-11149_365-11142del | |
| NM_000465.3:c.1314+99_1314+106del | NP_000456.2:n.1314+99_1314+106del | |
| NM_001282543.1:c.1257+99_1257+106del | NP_001269472.1:n.1257+99_1257+106del | |
| NM_001282545.1:c.215+16600_215+16607del | NP_001269474.1:n.215+16600_215+16607del | |
| NM_001282548.1:c.159-27906_159-27899del | NP_001269477.1:n.159-27906_159-27899del | |
| NM_001282549.1:c.364+11836_364+11843del | NP_001269478.1:n.364+11836_364+11843del | |
| NR_104212.1:n.1307+99_1307+106del | ||
| NR_104215.1:n.1250+99_1250+106del | ||
| NR_104216.1:n.507-11149_507-11142del | ||
| XM_011511567.1:c.1260+99_1260+106del | XP_011509869.1:n.1260+99_1260+106del | |
| XM_011511568.1:c.1314+99_1314+106del | XP_011509870.1:n.1314+99_1314+106del | |
| XM_017004613.1:c.1413+99_1413+106del | XP_016860102.1:n.1413+99_1413+106del | |
| XM_017004614.1:c.1413+99_1413+106del | XP_016860103.1:n.1413+99_1413+106del | |
| XR_002959322.1:n.1504+99_1504+106del | ||
| NM_000465.4:c.1314+99_1314+106del MANE Select | NP_000456.2:n.1314+99_1314+106del | |
| NM_001282543.2:c.1257+99_1257+106del | NP_001269472.1:n.1257+99_1257+106del | |
| NM_001282545.2:c.215+16600_215+16607del | NP_001269474.1:n.215+16600_215+16607del | |
| NM_001282548.2:c.159-27906_159-27899del | NP_001269477.1:n.159-27906_159-27899del | |
| NM_001282549.2:c.364+11836_364+11843del | NP_001269478.1:n.364+11836_364+11843del | |
| NR_104212.2:n.1279+99_1279+106del | ||
| NR_104215.2:n.1222+99_1222+106del | ||
| NR_104216.2:n.479-11149_479-11142del |