Linked Data
ClinVar Variation Id:
35755
dbSNP Id:
rs193922711
ExAC:
16:56531681 CA / C
gnomAD v2:
16-56531681-CA-C
gnomAD v4:
16-56497769-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56497773del , CM000678.2:g.56497773del | GRCh38 |
| NC_000016.9:g.56531685del , CM000678.1:g.56531685del | GRCh37 |
| NC_000016.8:g.55089186del | NCBI36 |
| NG_009312.1:g.27514del | |
| NG_009312.2:g.27255del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561877.2:c.1757del | ENSP00000454986.2:n.1757del | |
| ENST00000562813.2:n.2594del | ||
| ENST00000564459.6:n.497del | ||
| ENST00000565781.6:n.5301del | ||
| ENST00000565859.2:n.2844del | ||
| ENST00000566210.2:n.2199del | ||
| ENST00000566410.2:n.5284del | ||
| ENST00000566452.2:n.2230del | ||
| ENST00000566495.2:n.739del | ||
| ENST00000568104.6:c.1659+667del | ENSP00000456289.1:n.1659+667del | |
| ENST00000569192.6:n.875del | ||
| ENST00000618027.2:n.549del | ||
| ENST00000682000.1:n.1328del | ||
| ENST00000682001.1:n.2799del | ||
| ENST00000682005.1:n.1761del | ||
| ENST00000682038.1:c.*1159del | ENSP00000508404.1:n.*1159del | |
| ENST00000682047.1:c.1770del | ENSP00000507699.1:p.Phe590LeufsTer8 | |
| ENST00000682088.1:c.*4711del | ENSP00000508064.1:n.*4711del | |
| ENST00000682096.1:n.4220del | ||
| ENST00000682113.1:n.3987del | ||
| ENST00000682146.1:n.2927del | ||
| ENST00000682187.1:c.*1194del | ENSP00000507203.1:n.*1194del | |
| ENST00000682188.1:c.1770del | ENSP00000507655.1:p.Phe590LeufsTer8 | |
| ENST00000682201.1:n.1761del | ||
| ENST00000682205.1:c.1770del | ENSP00000508377.1:p.Phe590LeufsTer8 | |
| ENST00000682348.1:c.*819del | ENSP00000506965.1:n.*819del | |
| ENST00000682360.1:c.1173del | ENSP00000508007.1:p.Phe391LeufsTer8 | |
| ENST00000682370.1:n.3136del | ||
| ENST00000682420.1:n.2317del | ||
| ENST00000682429.1:c.*439del | ENSP00000506827.1:n.*439del | |
| ENST00000682449.1:c.*521del | ENSP00000507836.1:n.*521del | |
| ENST00000682470.1:c.1770del | ENSP00000507654.1:p.Phe590LeufsTer8 | |
| ENST00000682473.1:n.1735del | ||
| ENST00000682482.1:c.1644del | ENSP00000507903.1:p.Phe548LeufsTer8 | |
| ENST00000682492.1:n.1858del | ||
| ENST00000682493.1:c.*365del | ENSP00000506778.1:n.*365del | |
| ENST00000682543.1:c.*1194del | ENSP00000507592.1:n.*1194del | |
| ENST00000682597.1:n.3957del | ||
| ENST00000682623.1:n.371del | ||
| ENST00000682658.1:c.*802del | ENSP00000507773.1:n.*802del | |
| ENST00000682705.1:n.2839del | ||
| ENST00000682723.1:c.1173del | ENSP00000507115.1:p.Phe391LeufsTer8 | |
| ENST00000682735.1:c.*3438del | ENSP00000507007.1:n.*3438del | |
| ENST00000682737.1:c.1173del | ENSP00000506876.1:p.Phe391LeufsTer8 | |
| ENST00000682757.1:n.3463del | ||
| ENST00000682855.1:c.1770del | ENSP00000507027.1:p.Phe590LeufsTer8 | |
| ENST00000682875.1:c.1770del | ENSP00000507771.1:p.Phe590LeufsTer8 | |
| ENST00000682930.1:c.1695del | ENSP00000507981.1:p.Phe565LeufsTer8 | |
| ENST00000682948.1:n.2802del | ||
| ENST00000682960.1:n.4011del | ||
| ENST00000683008.1:n.5166del | ||
| ENST00000683020.1:c.*311del | ENSP00000507944.1:n.*311del | |
| ENST00000683099.1:n.3136del | ||
| ENST00000683170.1:n.3495del | ||
| ENST00000683212.1:c.*311del | ENSP00000507839.1:n.*311del | |
| ENST00000683248.1:n.3728del | ||
| ENST00000683343.1:n.2624del | ||
| ENST00000683347.1:n.1977del | ||
| ENST00000683384.1:c.1791del | ENSP00000508330.1:n.1791del | |
| ENST00000683396.1:n.4547del | ||
| ENST00000683410.1:n.2192del | ||
| ENST00000683443.1:n.1404del | ||
| ENST00000683485.1:n.4338del | ||
| ENST00000683504.1:n.7361del | ||
| ENST00000683533.1:c.*1194del | ENSP00000508296.1:n.*1194del | |
| ENST00000683609.1:n.3839del | ||
| ENST00000683644.1:c.*944del | ENSP00000507914.1:n.*944del | |
| ENST00000683660.1:n.1983del | ||
| ENST00000683669.1:n.1653del | ||
| ENST00000683690.1:c.*3222del | ENSP00000508152.1:n.*3222del | |
| ENST00000683719.1:n.1753del | ||
| ENST00000683757.1:n.1759del | ||
| ENST00000683858.1:c.1722del | ENSP00000507657.1:p.Phe574LeufsTer8 | |
| ENST00000683875.1:c.1542del | ENSP00000507602.1:p.Phe514LeufsTer8 | |
| ENST00000683904.1:n.4075del | ||
| ENST00000683910.1:n.4465del | ||
| ENST00000683959.1:c.*819del | ENSP00000508309.1:n.*819del | |
| ENST00000683976.1:c.*1319del | ENSP00000507183.1:n.*1319del | |
| ENST00000683978.1:n.1913del | ||
| ENST00000683992.1:c.*1410del | ENSP00000508144.1:n.*1410del | |
| ENST00000684020.1:n.2192del | ||
| ENST00000684044.1:n.2758del | ||
| ENST00000684057.1:n.2688del | ||
| ENST00000684076.1:n.3150del | ||
| ENST00000684128.1:n.3338del | ||
| ENST00000684194.1:n.3401del | ||
| ENST00000684205.1:n.3449del | ||
| ENST00000684246.1:c.*1410del | ENSP00000508273.1:n.*1410del | |
| ENST00000684388.1:c.690del | ENSP00000507647.1:p.Phe230LeufsTer8 | |
| ENST00000684402.1:n.3011del | ||
| ENST00000684446.1:n.3254del | ||
| ENST00000684531.1:n.3212del | ||
| ENST00000684635.1:c.1665del | ENSP00000507335.1:p.Phe555LeufsTer8 | |
| ENST00000684640.1:c.1732del | ENSP00000507292.1:n.1732del | |
| ENST00000684673.1:c.*365del | ENSP00000507746.1:n.*365del | |
| ENST00000684684.1:c.*1022del | ENSP00000507026.1:n.*1022del | |
| ENST00000245157.11:c.1770del MANE Select | ENSP00000245157.5:p.Phe590LeufsTer8 | |
| ENST00000245157.9:c.1770del | ENSP00000245157.5:p.Phe590LeufsTer8 | |
| ENST00000562813.1:n.2594del | ||
| ENST00000564459.5:c.33del | ENSP00000463731.1:p.Phe11LeufsTer8 | |
| ENST00000565781.5:n.5301del | ||
| ENST00000566495.1:n.739del | ||
| ENST00000568104.5:c.1659+667del | ENSP00000456289.1:n.1659+667del | |
| ENST00000569192.5:n.444del | ||
| NM_031885.3:c.1770del | NP_114091.3:p.Phe590LeufsTer8 | |
| XM_005256080.1:c.1770del | XP_005256137.1:p.Phe590LeufsTer8 | |
| XR_933378.1:n.1831del | ||
| XM_005256080.2:c.1770del | XP_005256137.1:p.Phe590LeufsTer8 | |
| XR_001751958.1:n.2131del | ||
| XR_001751959.2:n.2128del | ||
| XR_001751960.1:n.1831del | ||
| XR_001751961.1:n.1831del | ||
| XR_933380.2:n.1959del | ||
| NM_031885.4:c.1770del | NP_114091.3:p.Phe590LeufsTer8 | |
| NM_001377456.1:c.1770del | NP_001364385.1:p.Phe590LeufsTer8 | |
| NM_031885.5:c.1770del MANE Select | NP_114091.4:p.Phe590LeufsTer8 | |
| NR_165293.1:n.2060del | ||
| NR_165294.1:n.2057del | ||
| NR_165295.1:n.1888del | ||
| NR_165296.1:n.1760del | ||
| NR_165297.1:n.1760del |