Linked Data
dbSNP Id:
rs757938145
ExAC:
2:152354116 TTTTTTC / T
gnomAD v2:
2-152354116-TTTTTTC-T
gnomAD v3:
2-151497602-TTTTTTC-T
gnomAD v4:
2-151497602-TTTTTTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151497607_151497612del , CM000664.2:g.151497607_151497612del | GRCh38 |
| NC_000002.11:g.152354121_152354126del , CM000664.1:g.152354121_152354126del | GRCh37 |
| NC_000002.10:g.152062367_152062372del | NCBI36 |
| NG_009382.2:g.241880_241885del , LRG_202:g.241880_241885del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434685.6:c.3075-5114_3075-5109del (NEB) | ||
| ENST00000688578.1:c.900-575_900-570del (NEB) | ||
| ENST00000690043.1:c.6378-3355_6378-3350del (NEB) | ||
| ENST00000693000.1:n.2657-5114_2657-5109del (NEB) | ||
| ENST00000397345.8:c.24300+18_24300+23del (NEB) MANE Select | ENSP00000380505.3:n.24300+18_24300+23del | |
| ENST00000427231.7:c.24300+18_24300+23del (NEB) MANE Plus Clinical | ENSP00000416578.2:n.24300+18_24300+23del | |
| ENST00000172853.14:c.18826-1240_18826-1235del (NEB) | ENSP00000172853.10:n.18826-1240_18826-1235del | |
| ENST00000397337.6:c.701+18_701+23del (NEB) | ||
| ENST00000397345.7:c.24300+18_24300+23del (NEB) | ENSP00000380505.3:n.24300+18_24300+23del | |
| ENST00000409198.5:c.18826-1240_18826-1235del (NEB) | ENSP00000386259.1:n.18826-1240_18826-1235del | |
| ENST00000413693.5:c.8026-1240_8026-1235del (NEB) | ENSP00000410961.1:n.8026-1240_8026-1235del | |
| ENST00000421461.6:c.736+18_736+23del (NEB) | ||
| ENST00000424585.1:c.610-575_610-570del (NEB) | ENSP00000404876.1:n.610-575_610-570del | |
| ENST00000427231.6:c.24300+18_24300+23del (NEB) | ENSP00000416578.2:n.24300+18_24300+23del | |
| ENST00000434685.5:c.1395-3355_1395-3350del (NEB) | ||
| ENST00000454583.6:c.2754-1738_2754-1733del (RIF1) | ||
| ENST00000457745.1:n.579-179_579-174del (RIF1) | ||
| ENST00000484077.1:n.353-179_353-174del (RIF1) | ||
| ENST00000498015.2:n.226-5114_226-5109del (NEB) | ||
| ENST00000603639.5:c.24300+18_24300+23del (NEB) | ENSP00000473894.1:n.24300+18_24300+23del | |
| ENST00000604864.5:c.24300+18_24300+23del (NEB) | ENSP00000474498.1:n.24300+18_24300+23del | |
| ENST00000618972.4:c.24405+18_24405+23del (NEB) | ENSP00000484342.1:n.24405+18_24405+23del | |
| NM_001164507.1:c.24300+18_24300+23del (NEB) | NP_001157979.1:n.24300+18_24300+23del | |
| NM_001164508.1:c.24300+18_24300+23del (NEB) | NP_001157980.1:n.24300+18_24300+23del | |
| NM_001271208.1:c.24405+18_24405+23del , LRG_202t1:c.24405+18_24405+23del (NEB) | NP_001258137.1:n.24405+18_24405+23del | |
| NM_004543.4:c.18826-1240_18826-1235del (NEB) | NP_004534.2:n.18826-1240_18826-1235del | |
| XM_005246590.1:c.24207+18_24207+23del (NEB) | XP_005246647.1:n.24207+18_24207+23del | |
| XM_005246591.1:c.24207+18_24207+23del (NEB) | XP_005246648.1:n.24207+18_24207+23del | |
| XM_005246592.1:c.24300+18_24300+23del (NEB) | XP_005246649.1:n.24300+18_24300+23del | |
| XM_005246593.1:c.24300+18_24300+23del (NEB) | XP_005246650.1:n.24300+18_24300+23del | |
| XM_005246594.1:c.24207+18_24207+23del (NEB) | XP_005246651.1:n.24207+18_24207+23del | |
| XM_005246595.1:c.24207+18_24207+23del (NEB) | XP_005246652.1:n.24207+18_24207+23del | |
| XM_005246596.1:c.24114+18_24114+23del (NEB) | XP_005246653.1:n.24114+18_24114+23del | |
| XM_005246597.1:c.24300+18_24300+23del (NEB) | XP_005246654.1:n.24300+18_24300+23del | |
| XM_005246598.1:c.24300+18_24300+23del (NEB) | XP_005246655.1:n.24300+18_24300+23del | |
| XM_005246599.1:c.24021+18_24021+23del (NEB) | XP_005246656.1:n.24021+18_24021+23del | |
| XM_005246600.1:c.24021+18_24021+23del (NEB) | XP_005246657.1:n.24021+18_24021+23del | |
| XM_005246601.1:c.23929-575_23929-570del (NEB) | XP_005246658.1:n.23929-575_23929-570del | |
| XM_005246602.1:c.23928+18_23928+23del (NEB) | XP_005246659.1:n.23928+18_23928+23del | |
| XM_005246603.1:c.23929-1240_23929-1235del (NEB) | XP_005246660.1:n.23929-1240_23929-1235del | |
| XM_005246604.1:c.23929-575_23929-570del (NEB) | XP_005246661.1:n.23929-575_23929-570del | |
| XM_005246606.1:c.23928+18_23928+23del (NEB) | XP_005246663.1:n.23928+18_23928+23del | |
| XM_005246608.1:c.23929-3355_23929-3350del (NEB) | XP_005246665.1:n.23929-3355_23929-3350del | |
| XM_005246610.1:c.23836-3355_23836-3350del (NEB) | XP_005246667.1:n.23836-3355_23836-3350del | |
| XM_005246611.1:c.24021+3783_24021+3788del (NEB) | XP_005246668.1:n.24021+3783_24021+3788del | |
| XM_005246612.1:c.23571+18_23571+23del (NEB) | XP_005246669.1:n.23571+18_23571+23del | |
| XM_005246613.1:c.23571+18_23571+23del (NEB) | XP_005246670.1:n.23571+18_23571+23del | |
| XM_005246615.1:c.23928+18_23928+23del (NEB) | XP_005246672.1:n.23928+18_23928+23del | |
| XM_005246616.1:c.*616_*621del (NEB) | XP_005246673.1:n.*616_*621del | |
| XM_005246617.1:c.21384+18_21384+23del (NEB) | XP_005246674.1:n.21384+18_21384+23del | |
| XM_006712541.1:c.23929-1240_23929-1235del (NEB) | XP_006712604.1:n.23929-1240_23929-1235del | |
| XM_006712542.1:c.24021+18_24021+23del (NEB) | XP_006712605.1:n.24021+18_24021+23del | |
| XM_011511224.1:c.24207+18_24207+23del (NEB) | XP_011509526.1:n.24207+18_24207+23del | |
| XM_011511225.1:c.23743-3355_23743-3350del (NEB) | XP_011509527.1:n.23743-3355_23743-3350del | |
| XM_011511226.1:c.22113+18_22113+23del (NEB) | XP_011509528.1:n.22113+18_22113+23del | |
| XM_011511227.1:c.19926+18_19926+23del (NEB) | XP_011509529.1:n.19926+18_19926+23del | |
| XR_922955.1:n.7838+14272_7838+14277del (RIF1) | ||
| XR_922956.1:n.7937-179_7937-174del (RIF1) | ||
| XR_922957.1:n.7839-179_7839-174del (RIF1) | ||
| XM_005246590.2:c.24207+18_24207+23del (NEB) | XP_005246647.1:n.24207+18_24207+23del | |
| XM_005246591.2:c.24207+18_24207+23del (NEB) | XP_005246648.1:n.24207+18_24207+23del | |
| XM_005246592.2:c.24300+18_24300+23del (NEB) | XP_005246649.1:n.24300+18_24300+23del | |
| XM_005246593.2:c.24300+18_24300+23del (NEB) | XP_005246650.1:n.24300+18_24300+23del | |
| XM_005246594.2:c.24207+18_24207+23del (NEB) | XP_005246651.1:n.24207+18_24207+23del | |
| XM_005246596.2:c.24114+18_24114+23del (NEB) | XP_005246653.1:n.24114+18_24114+23del | |
| XM_005246597.2:c.24300+18_24300+23del (NEB) | XP_005246654.1:n.24300+18_24300+23del | |
| XM_005246598.2:c.24300+18_24300+23del (NEB) | XP_005246655.1:n.24300+18_24300+23del | |
| XM_005246599.2:c.24021+18_24021+23del (NEB) | XP_005246656.1:n.24021+18_24021+23del | |
| XM_005246601.2:c.23929-575_23929-570del (NEB) | XP_005246658.1:n.23929-575_23929-570del | |
| XM_005246602.2:c.23928+18_23928+23del (NEB) | XP_005246659.1:n.23928+18_23928+23del | |
| XM_005246603.2:c.23929-1240_23929-1235del (NEB) | XP_005246660.1:n.23929-1240_23929-1235del | |
| XM_005246604.2:c.23929-575_23929-570del (NEB) | XP_005246661.1:n.23929-575_23929-570del | |
| XM_005246606.2:c.23928+18_23928+23del (NEB) | XP_005246663.1:n.23928+18_23928+23del | |
| XM_005246608.2:c.23929-3355_23929-3350del (NEB) | XP_005246665.1:n.23929-3355_23929-3350del | |
| XM_005246610.2:c.23836-3355_23836-3350del (NEB) | XP_005246667.1:n.23836-3355_23836-3350del | |
| XM_005246611.2:c.24021+3783_24021+3788del (NEB) | XP_005246668.1:n.24021+3783_24021+3788del | |
| XM_005246612.2:c.23571+18_23571+23del (NEB) | XP_005246669.1:n.23571+18_23571+23del | |
| XM_005246613.2:c.23571+18_23571+23del (NEB) | XP_005246670.1:n.23571+18_23571+23del | |
| XM_005246615.2:c.23928+18_23928+23del (NEB) | XP_005246672.1:n.23928+18_23928+23del | |
| XM_005246617.2:c.21384+18_21384+23del (NEB) | XP_005246674.1:n.21384+18_21384+23del | |
| XM_006712541.2:c.23929-1240_23929-1235del (NEB) | XP_006712604.1:n.23929-1240_23929-1235del | |
| XM_006712542.2:c.24021+18_24021+23del (NEB) | XP_006712605.1:n.24021+18_24021+23del | |
| XM_011511225.2:c.23743-3355_23743-3350del (NEB) | XP_011509527.1:n.23743-3355_23743-3350del | |
| XM_011511226.2:c.22113+18_22113+23del (NEB) | XP_011509528.1:n.22113+18_22113+23del | |
| XM_011511227.2:c.19926+18_19926+23del (NEB) | XP_011509529.1:n.19926+18_19926+23del | |
| XM_017004177.1:c.24189+18_24189+23del (NEB) | XP_016859666.1:n.24189+18_24189+23del | |
| XM_017004178.1:c.24114+18_24114+23del (NEB) | XP_016859667.1:n.24114+18_24114+23del | |
| XM_017004179.1:c.23836-575_23836-570del (NEB) | XP_016859668.1:n.23836-575_23836-570del | |
| XM_017004180.1:c.23835+18_23835+23del (NEB) | XP_016859669.1:n.23835+18_23835+23del | |
| XM_017004181.1:c.23836-1240_23836-1235del (NEB) | XP_016859670.1:n.23836-1240_23836-1235del | |
| XM_017004182.1:c.23836-1240_23836-1235del (NEB) | XP_016859671.1:n.23836-1240_23836-1235del | |
| XM_017004183.1:c.23836-3355_23836-3350del (NEB) | XP_016859672.1:n.23836-3355_23836-3350del | |
| XM_017004184.1:c.23836-1240_23836-1235del (NEB) | XP_016859673.1:n.23836-1240_23836-1235del | |
| XM_017004185.1:c.23743-5114_23743-5109del (NEB) | XP_016859674.1:n.23743-5114_23743-5109del | |
| XR_001738811.2:n.8312-179_8312-174del (RIF1) | ||
| XR_001738812.2:n.8312-1798_8312-1793del (RIF1) | ||
| XR_001738813.2:n.8214-179_8214-174del (RIF1) | ||
| XR_001738814.2:n.8214-1798_8214-1793del (RIF1) | ||
| XR_001738815.2:n.8214-5427_8214-5422del (RIF1) | ||
| XR_001738816.2:n.8214-8603_8214-8598del (RIF1) | ||
| XR_001738817.2:n.8213+14272_8213+14277del (RIF1) | ||
| NM_001271208.2:c.24405+18_24405+23del (NEB) | NP_001258137.2:n.24405+18_24405+23del | |
| NM_004543.5:c.18826-1240_18826-1235del (NEB) | NP_004534.3:n.18826-1240_18826-1235del | |
| NM_001164507.2:c.24300+18_24300+23del (NEB) MANE Plus Clinical | NP_001157979.2:n.24300+18_24300+23del | |
| NM_001164508.2:c.24300+18_24300+23del (NEB) MANE Select | NP_001157980.2:n.24300+18_24300+23del |