gnomAD v4:
Joint Max Group AF
6.8e-7 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23333956_23333962del , CM000675.2:g.23333956_23333962del | GRCh38 |
| NC_000013.10:g.23908095_23908101del , CM000675.1:g.23908095_23908101del | GRCh37 |
| NC_000013.9:g.22806095_22806101del | NCBI36 |
| NG_012342.1:g.104743_104749del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+19825_2185+19831del | ENSP00000508399.1:n.2185+19825_2185+19831del | |
| ENST00000682944.1:c.9943_9949del | ENSP00000507173.1:p.Leu3315ThrfsTer17 | |
| ENST00000683210.1:c.2185+19825_2185+19831del | ENSP00000506739.1:n.2185+19825_2185+19831del | |
| ENST00000683270.1:c.6445+3462_6445+3468del | ENSP00000507624.1:n.6445+3462_6445+3468del | |
| ENST00000683367.1:c.2177-4476_2177-4470del | ENSP00000507780.1:n.2177-4476_2177-4470del | |
| ENST00000683489.1:c.2292-4008_2292-4002del | ENSP00000508403.1:n.2292-4008_2292-4002del | |
| ENST00000683680.1:c.2319-4008_2319-4002del | ENSP00000507223.1:n.2319-4008_2319-4002del | |
| ENST00000684163.1:c.2204-4476_2204-4470del | ENSP00000508262.1:n.2204-4476_2204-4470del | |
| ENST00000684196.1:n.4543-4476_4543-4470del | ||
| ENST00000684325.1:c.2186-12286_2186-12280del | ENSP00000508121.1:n.2186-12286_2186-12280del | |
| ENST00000684385.1:c.2221-4476_2221-4470del | ENSP00000507855.1:n.2221-4476_2221-4470del | |
| ENST00000684497.1:c.2186-11316_2186-11310del | ENSP00000507057.1:n.2186-11316_2186-11310del | |
| ENST00000382292.9:c.9916_9922del MANE Select | ENSP00000371729.3:p.Leu3306ThrfsTer17 | |
| ENST00000423156.2:c.2186-4476_2186-4470del | ENSP00000390925.2:n.2186-4476_2186-4470del | |
| ENST00000455470.6:c.2432-4476_2432-4470del | ENSP00000406565.2:n.2432-4476_2432-4470del | |
| ENST00000382292.7:c.9916_9922del | ENSP00000371729.3:p.Leu3306ThrfsTer17 | |
| ENST00000382298.7:c.9916_9922del | ENSP00000371735.3:p.Leu3306ThrfsTer17 | |
| ENST00000402364.1:c.7666_7672del | ENSP00000385844.1:p.Leu2556ThrfsTer17 | |
| ENST00000423156.1:c.1058-4476_1058-4470del | ENSP00000390925.1:n.1058-4476_1058-4470del | |
| ENST00000455470.5:c.2130-4476_2130-4470del | ||
| NM_001278055.1:c.9475_9481del | NP_001264984.1:p.Leu3159ThrfsTer17 | |
| NM_014363.5:c.9916_9922del | NP_055178.3:p.Leu3306ThrfsTer17 | |
| XM_005266338.1:c.9943_9949del | XP_005266395.1:p.Leu3315ThrfsTer17 | |
| XM_011535038.1:c.9967_9973del | XP_011533340.1:p.Leu3323ThrfsTer17 | |
| XM_011535039.1:c.9934_9940del | XP_011533341.1:p.Leu3312ThrfsTer17 | |
| XM_005266338.2:c.9943_9949del | XP_005266395.1:p.Leu3315ThrfsTer17 | |
| XM_011535039.2:c.9934_9940del | XP_011533341.1:p.Leu3312ThrfsTer17 | |
| XM_017020539.1:c.9907_9913del | XP_016876028.1:p.Leu3303ThrfsTer17 | |
| XM_024449337.1:c.9943_9949del | XP_024305105.1:p.Leu3315ThrfsTer17 | |
| NM_014363.6:c.9916_9922del MANE Select | NP_055178.3:p.Leu3306ThrfsTer17 | |
| NM_001278055.2:c.9475_9481del | NP_001264984.1:p.Leu3159ThrfsTer17 |