Linked Data
dbSNP Id:
rs776323410
ExAC:
13:23907474 TTAA / T
gnomAD v2:
13-23907474-TTAA-T
gnomAD v3:
13-23333335-TTAA-T
gnomAD v4:
13-23333335-TTAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23333337_23333339del , CM000675.2:g.23333337_23333339del | GRCh38 |
| NC_000013.10:g.23907476_23907478del , CM000675.1:g.23907476_23907478del | GRCh37 |
| NC_000013.9:g.22805476_22805478del | NCBI36 |
| NG_012342.1:g.105365_105367del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+20447_2185+20449del | ENSP00000508399.1:n.2185+20447_2185+20449del | |
| ENST00000682944.1:c.10565_10567del | ENSP00000507173.1:p.Ile3522del | |
| ENST00000683210.1:c.2185+20447_2185+20449del | ENSP00000506739.1:n.2185+20447_2185+20449del | |
| ENST00000683270.1:c.6446-3854_6446-3852del | ENSP00000507624.1:n.6446-3854_6446-3852del | |
| ENST00000683367.1:c.2177-3854_2177-3852del | ENSP00000507780.1:n.2177-3854_2177-3852del | |
| ENST00000683489.1:c.2292-3386_2292-3384del | ENSP00000508403.1:n.2292-3386_2292-3384del | |
| ENST00000683680.1:c.2319-3386_2319-3384del | ENSP00000507223.1:n.2319-3386_2319-3384del | |
| ENST00000684163.1:c.2204-3854_2204-3852del | ENSP00000508262.1:n.2204-3854_2204-3852del | |
| ENST00000684196.1:n.4543-3854_4543-3852del | ||
| ENST00000684325.1:c.2186-11664_2186-11662del | ENSP00000508121.1:n.2186-11664_2186-11662del | |
| ENST00000684385.1:c.2221-3854_2221-3852del | ENSP00000507855.1:n.2221-3854_2221-3852del | |
| ENST00000684497.1:c.2186-10694_2186-10692del | ENSP00000507057.1:n.2186-10694_2186-10692del | |
| ENST00000382292.9:c.10538_10540del MANE Select | ENSP00000371729.3:p.Ile3513del | |
| ENST00000423156.2:c.2186-3854_2186-3852del | ENSP00000390925.2:n.2186-3854_2186-3852del | |
| ENST00000455470.6:c.2432-3854_2432-3852del | ENSP00000406565.2:n.2432-3854_2432-3852del | |
| ENST00000382292.7:c.10538_10540del | ENSP00000371729.3:p.Ile3513del | |
| ENST00000382298.7:c.10538_10540del | ENSP00000371735.3:p.Ile3513del | |
| ENST00000402364.1:c.8288_8290del | ENSP00000385844.1:p.Ile2763del | |
| ENST00000423156.1:c.1058-3854_1058-3852del | ENSP00000390925.1:n.1058-3854_1058-3852del | |
| ENST00000455470.5:c.2130-3854_2130-3852del | ||
| NM_001278055.1:c.10097_10099del | NP_001264984.1:p.Ile3366del | |
| NM_014363.5:c.10538_10540del | NP_055178.3:p.Ile3513del | |
| XM_005266338.1:c.10565_10567del | XP_005266395.1:p.Ile3522del | |
| XM_011535038.1:c.10589_10591del | XP_011533340.1:p.Ile3530del | |
| XM_011535039.1:c.10556_10558del | XP_011533341.1:p.Ile3519del | |
| XM_005266338.2:c.10565_10567del | XP_005266395.1:p.Ile3522del | |
| XM_011535039.2:c.10556_10558del | XP_011533341.1:p.Ile3519del | |
| XM_017020539.1:c.10529_10531del | XP_016876028.1:p.Ile3510del | |
| XM_024449337.1:c.10565_10567del | XP_024305105.1:p.Ile3522del | |
| NM_014363.6:c.10538_10540del MANE Select | NP_055178.3:p.Ile3513del | |
| NM_001278055.2:c.10097_10099del | NP_001264984.1:p.Ile3366del |