Linked Data
dbSNP Id:
rs750413473
ExAC:
2:215593432 TCA / T
gnomAD v2:
2-215593432-TCA-T
gnomAD v3:
2-214728708-TCA-T
gnomAD v4:
2-214728708-TCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728713_214728714del , CM000664.2:g.214728713_214728714del | GRCh38 |
| NC_000002.11:g.215593437_215593438del , CM000664.1:g.215593437_215593438del | GRCh37 |
| NC_000002.10:g.215301682_215301683del | NCBI36 |
| NG_012047.2:g.85995_85996del | |
| NG_012047.3:g.86002_86003del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.2300_2301del MANE Select | ENSP00000260947.4:p.Val767AspfsTer4 | |
| ENST00000421162.2:c.947_948del | ENSP00000392245.2:p.Val316AspfsTer4 | |
| ENST00000613192.2:c.*363_*364del | ENSP00000483275.2:n.*363_*364del | |
| ENST00000613374.5:c.890_891del | ENSP00000484464.1:p.Val297AspfsTer4 | |
| ENST00000613706.5:c.1892_1893del | ENSP00000484976.2:p.Val631AspfsTer4 | |
| ENST00000617164.5:c.2243_2244del | ENSP00000480470.1:p.Val748AspfsTer4 | |
| ENST00000619009.5:c.761_762del | ENSP00000482293.1:p.Val254AspfsTer4 | |
| ENST00000650978.1:c.3675_3676del | ||
| ENST00000260947.8:c.2300_2301del | ENSP00000260947.4:p.Val767AspfsTer4 | |
| ENST00000432456.5:c.443_444del | ||
| ENST00000455743.5:c.*1920_*1921del | ENSP00000412186.1:n.*1920_*1921del | |
| ENST00000471590.5:n.635_636del | ||
| ENST00000613192.1:c.470_471del | ENSP00000483275.1:p.Val157AspfsTer4 | |
| ENST00000613374.4:c.890_891del | ENSP00000484464.1:p.Val297AspfsTer4 | |
| ENST00000613706.4:c.947_948del | ENSP00000484976.1:p.Val316AspfsTer4 | |
| ENST00000617164.4:c.2243_2244del | ENSP00000480470.1:p.Val748AspfsTer4 | |
| ENST00000619009.4:c.761_762del | ENSP00000482293.1:p.Val254AspfsTer4 | |
| ENST00000620057.4:c.*966_*967del | ENSP00000481988.1:n.*966_*967del | |
| NM_000465.3:c.2300_2301del | NP_000456.2:p.Val767AspfsTer4 | |
| NM_001282543.1:c.2243_2244del | NP_001269472.1:p.Val748AspfsTer4 | |
| NM_001282545.1:c.947_948del | NP_001269474.1:p.Val316AspfsTer4 | |
| NM_001282548.1:c.890_891del | NP_001269477.1:p.Val297AspfsTer4 | |
| NM_001282549.1:c.761_762del | NP_001269478.1:p.Val254AspfsTer4 | |
| NR_104212.1:n.2293_2294del | ||
| NR_104215.1:n.2236_2237del | ||
| NR_104216.1:n.1492_1493del | ||
| XM_011511567.1:c.2246_2247del | XP_011509869.1:p.Val749AspfsTer4 | |
| XM_017004613.1:c.2399_2400del | XP_016860102.1:p.Val800AspfsTer4 | |
| XR_002959322.1:n.2666_2667del | ||
| NM_000465.4:c.2300_2301del MANE Select | NP_000456.2:p.Val767AspfsTer4 | |
| NM_001282543.2:c.2243_2244del | NP_001269472.1:p.Val748AspfsTer4 | |
| NM_001282545.2:c.947_948del | NP_001269474.1:p.Val316AspfsTer4 | |
| NM_001282548.2:c.890_891del | NP_001269477.1:p.Val297AspfsTer4 | |
| NM_001282549.2:c.761_762del | NP_001269478.1:p.Val254AspfsTer4 | |
| NR_104212.2:n.2265_2266del | ||
| NR_104215.2:n.2208_2209del | ||
| NR_104216.2:n.1464_1465del |