Linked Data
dbSNP Id:
rs1156922126
MyVariant Identifiers:
chr2:g.152354113_152354114insGTT (hg19)
chr2:g.151497599_151497600insGTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151497600_151497602dup , CM000664.2:g.151497600_151497602dup | GRCh38 |
| NC_000002.11:g.152354114_152354116dup , CM000664.1:g.152354114_152354116dup | GRCh37 |
| NC_000002.10:g.152062360_152062362dup | NCBI36 |
| NG_009382.2:g.241886_241888dup , LRG_202:g.241886_241888dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434685.6:c.3075-5108_3075-5106dup (NEB) | ||
| ENST00000688578.1:c.900-569_900-567dup (NEB) | ||
| ENST00000690043.1:c.6378-3349_6378-3347dup (NEB) | ||
| ENST00000693000.1:n.2657-5108_2657-5106dup (NEB) | ||
| ENST00000397345.8:c.24300+24_24300+26dup (NEB) MANE Select | ENSP00000380505.3:n.24300+24_24300+26dup | |
| ENST00000427231.7:c.24300+24_24300+26dup (NEB) MANE Plus Clinical | ENSP00000416578.2:n.24300+24_24300+26dup | |
| ENST00000172853.14:c.18826-1234_18826-1232dup (NEB) | ENSP00000172853.10:n.18826-1234_18826-1232dup | |
| ENST00000397337.6:c.701+24_701+26dup (NEB) | ||
| ENST00000397345.7:c.24300+24_24300+26dup (NEB) | ENSP00000380505.3:n.24300+24_24300+26dup | |
| ENST00000409198.5:c.18826-1234_18826-1232dup (NEB) | ENSP00000386259.1:n.18826-1234_18826-1232dup | |
| ENST00000413693.5:c.8026-1234_8026-1232dup (NEB) | ENSP00000410961.1:n.8026-1234_8026-1232dup | |
| ENST00000421461.6:c.736+24_736+26dup (NEB) | ||
| ENST00000424585.1:c.610-569_610-567dup (NEB) | ENSP00000404876.1:n.610-569_610-567dup | |
| ENST00000427231.6:c.24300+24_24300+26dup (NEB) | ENSP00000416578.2:n.24300+24_24300+26dup | |
| ENST00000434685.5:c.1395-3349_1395-3347dup (NEB) | ||
| ENST00000454583.6:c.2754-1745_2754-1743dup (RIF1) | ||
| ENST00000457745.1:n.579-186_579-184dup (RIF1) | ||
| ENST00000484077.1:n.353-186_353-184dup (RIF1) | ||
| ENST00000498015.2:n.226-5108_226-5106dup (NEB) | ||
| ENST00000603639.5:c.24300+24_24300+26dup (NEB) | ENSP00000473894.1:n.24300+24_24300+26dup | |
| ENST00000604864.5:c.24300+24_24300+26dup (NEB) | ENSP00000474498.1:n.24300+24_24300+26dup | |
| ENST00000618972.4:c.24405+24_24405+26dup (NEB) | ENSP00000484342.1:n.24405+24_24405+26dup | |
| NM_001164507.1:c.24300+24_24300+26dup (NEB) | NP_001157979.1:n.24300+24_24300+26dup | |
| NM_001164508.1:c.24300+24_24300+26dup (NEB) | NP_001157980.1:n.24300+24_24300+26dup | |
| NM_001271208.1:c.24405+24_24405+26dup , LRG_202t1:c.24405+24_24405+26dup (NEB) | NP_001258137.1:n.24405+24_24405+26dup | |
| NM_004543.4:c.18826-1234_18826-1232dup (NEB) | NP_004534.2:n.18826-1234_18826-1232dup | |
| XM_005246590.1:c.24207+24_24207+26dup (NEB) | XP_005246647.1:n.24207+24_24207+26dup | |
| XM_005246591.1:c.24207+24_24207+26dup (NEB) | XP_005246648.1:n.24207+24_24207+26dup | |
| XM_005246592.1:c.24300+24_24300+26dup (NEB) | XP_005246649.1:n.24300+24_24300+26dup | |
| XM_005246593.1:c.24300+24_24300+26dup (NEB) | XP_005246650.1:n.24300+24_24300+26dup | |
| XM_005246594.1:c.24207+24_24207+26dup (NEB) | XP_005246651.1:n.24207+24_24207+26dup | |
| XM_005246595.1:c.24207+24_24207+26dup (NEB) | XP_005246652.1:n.24207+24_24207+26dup | |
| XM_005246596.1:c.24114+24_24114+26dup (NEB) | XP_005246653.1:n.24114+24_24114+26dup | |
| XM_005246597.1:c.24300+24_24300+26dup (NEB) | XP_005246654.1:n.24300+24_24300+26dup | |
| XM_005246598.1:c.24300+24_24300+26dup (NEB) | XP_005246655.1:n.24300+24_24300+26dup | |
| XM_005246599.1:c.24021+24_24021+26dup (NEB) | XP_005246656.1:n.24021+24_24021+26dup | |
| XM_005246600.1:c.24021+24_24021+26dup (NEB) | XP_005246657.1:n.24021+24_24021+26dup | |
| XM_005246601.1:c.23929-569_23929-567dup (NEB) | XP_005246658.1:n.23929-569_23929-567dup | |
| XM_005246602.1:c.23928+24_23928+26dup (NEB) | XP_005246659.1:n.23928+24_23928+26dup | |
| XM_005246603.1:c.23929-1234_23929-1232dup (NEB) | XP_005246660.1:n.23929-1234_23929-1232dup | |
| XM_005246604.1:c.23929-569_23929-567dup (NEB) | XP_005246661.1:n.23929-569_23929-567dup | |
| XM_005246606.1:c.23928+24_23928+26dup (NEB) | XP_005246663.1:n.23928+24_23928+26dup | |
| XM_005246608.1:c.23929-3349_23929-3347dup (NEB) | XP_005246665.1:n.23929-3349_23929-3347dup | |
| XM_005246610.1:c.23836-3349_23836-3347dup (NEB) | XP_005246667.1:n.23836-3349_23836-3347dup | |
| XM_005246611.1:c.24021+3789_24021+3791dup (NEB) | XP_005246668.1:n.24021+3789_24021+3791dup | |
| XM_005246612.1:c.23571+24_23571+26dup (NEB) | XP_005246669.1:n.23571+24_23571+26dup | |
| XM_005246613.1:c.23571+24_23571+26dup (NEB) | XP_005246670.1:n.23571+24_23571+26dup | |
| XM_005246615.1:c.23928+24_23928+26dup (NEB) | XP_005246672.1:n.23928+24_23928+26dup | |
| XM_005246616.1:c.*622_*624dup (NEB) | XP_005246673.1:n.*622_*624dup | |
| XM_005246617.1:c.21384+24_21384+26dup (NEB) | XP_005246674.1:n.21384+24_21384+26dup | |
| XM_006712541.1:c.23929-1234_23929-1232dup (NEB) | XP_006712604.1:n.23929-1234_23929-1232dup | |
| XM_006712542.1:c.24021+24_24021+26dup (NEB) | XP_006712605.1:n.24021+24_24021+26dup | |
| XM_011511224.1:c.24207+24_24207+26dup (NEB) | XP_011509526.1:n.24207+24_24207+26dup | |
| XM_011511225.1:c.23743-3349_23743-3347dup (NEB) | XP_011509527.1:n.23743-3349_23743-3347dup | |
| XM_011511226.1:c.22113+24_22113+26dup (NEB) | XP_011509528.1:n.22113+24_22113+26dup | |
| XM_011511227.1:c.19926+24_19926+26dup (NEB) | XP_011509529.1:n.19926+24_19926+26dup | |
| XR_922955.1:n.7838+14265_7838+14267dup (RIF1) | ||
| XR_922956.1:n.7937-186_7937-184dup (RIF1) | ||
| XR_922957.1:n.7839-186_7839-184dup (RIF1) | ||
| XM_005246590.2:c.24207+24_24207+26dup (NEB) | XP_005246647.1:n.24207+24_24207+26dup | |
| XM_005246591.2:c.24207+24_24207+26dup (NEB) | XP_005246648.1:n.24207+24_24207+26dup | |
| XM_005246592.2:c.24300+24_24300+26dup (NEB) | XP_005246649.1:n.24300+24_24300+26dup | |
| XM_005246593.2:c.24300+24_24300+26dup (NEB) | XP_005246650.1:n.24300+24_24300+26dup | |
| XM_005246594.2:c.24207+24_24207+26dup (NEB) | XP_005246651.1:n.24207+24_24207+26dup | |
| XM_005246596.2:c.24114+24_24114+26dup (NEB) | XP_005246653.1:n.24114+24_24114+26dup | |
| XM_005246597.2:c.24300+24_24300+26dup (NEB) | XP_005246654.1:n.24300+24_24300+26dup | |
| XM_005246598.2:c.24300+24_24300+26dup (NEB) | XP_005246655.1:n.24300+24_24300+26dup | |
| XM_005246599.2:c.24021+24_24021+26dup (NEB) | XP_005246656.1:n.24021+24_24021+26dup | |
| XM_005246601.2:c.23929-569_23929-567dup (NEB) | XP_005246658.1:n.23929-569_23929-567dup | |
| XM_005246602.2:c.23928+24_23928+26dup (NEB) | XP_005246659.1:n.23928+24_23928+26dup | |
| XM_005246603.2:c.23929-1234_23929-1232dup (NEB) | XP_005246660.1:n.23929-1234_23929-1232dup | |
| XM_005246604.2:c.23929-569_23929-567dup (NEB) | XP_005246661.1:n.23929-569_23929-567dup | |
| XM_005246606.2:c.23928+24_23928+26dup (NEB) | XP_005246663.1:n.23928+24_23928+26dup | |
| XM_005246608.2:c.23929-3349_23929-3347dup (NEB) | XP_005246665.1:n.23929-3349_23929-3347dup | |
| XM_005246610.2:c.23836-3349_23836-3347dup (NEB) | XP_005246667.1:n.23836-3349_23836-3347dup | |
| XM_005246611.2:c.24021+3789_24021+3791dup (NEB) | XP_005246668.1:n.24021+3789_24021+3791dup | |
| XM_005246612.2:c.23571+24_23571+26dup (NEB) | XP_005246669.1:n.23571+24_23571+26dup | |
| XM_005246613.2:c.23571+24_23571+26dup (NEB) | XP_005246670.1:n.23571+24_23571+26dup | |
| XM_005246615.2:c.23928+24_23928+26dup (NEB) | XP_005246672.1:n.23928+24_23928+26dup | |
| XM_005246617.2:c.21384+24_21384+26dup (NEB) | XP_005246674.1:n.21384+24_21384+26dup | |
| XM_006712541.2:c.23929-1234_23929-1232dup (NEB) | XP_006712604.1:n.23929-1234_23929-1232dup | |
| XM_006712542.2:c.24021+24_24021+26dup (NEB) | XP_006712605.1:n.24021+24_24021+26dup | |
| XM_011511225.2:c.23743-3349_23743-3347dup (NEB) | XP_011509527.1:n.23743-3349_23743-3347dup | |
| XM_011511226.2:c.22113+24_22113+26dup (NEB) | XP_011509528.1:n.22113+24_22113+26dup | |
| XM_011511227.2:c.19926+24_19926+26dup (NEB) | XP_011509529.1:n.19926+24_19926+26dup | |
| XM_017004177.1:c.24189+24_24189+26dup (NEB) | XP_016859666.1:n.24189+24_24189+26dup | |
| XM_017004178.1:c.24114+24_24114+26dup (NEB) | XP_016859667.1:n.24114+24_24114+26dup | |
| XM_017004179.1:c.23836-569_23836-567dup (NEB) | XP_016859668.1:n.23836-569_23836-567dup | |
| XM_017004180.1:c.23835+24_23835+26dup (NEB) | XP_016859669.1:n.23835+24_23835+26dup | |
| XM_017004181.1:c.23836-1234_23836-1232dup (NEB) | XP_016859670.1:n.23836-1234_23836-1232dup | |
| XM_017004182.1:c.23836-1234_23836-1232dup (NEB) | XP_016859671.1:n.23836-1234_23836-1232dup | |
| XM_017004183.1:c.23836-3349_23836-3347dup (NEB) | XP_016859672.1:n.23836-3349_23836-3347dup | |
| XM_017004184.1:c.23836-1234_23836-1232dup (NEB) | XP_016859673.1:n.23836-1234_23836-1232dup | |
| XM_017004185.1:c.23743-5108_23743-5106dup (NEB) | XP_016859674.1:n.23743-5108_23743-5106dup | |
| XR_001738811.2:n.8312-186_8312-184dup (RIF1) | ||
| XR_001738812.2:n.8312-1805_8312-1803dup (RIF1) | ||
| XR_001738813.2:n.8214-186_8214-184dup (RIF1) | ||
| XR_001738814.2:n.8214-1805_8214-1803dup (RIF1) | ||
| XR_001738815.2:n.8214-5434_8214-5432dup (RIF1) | ||
| XR_001738816.2:n.8214-8610_8214-8608dup (RIF1) | ||
| XR_001738817.2:n.8213+14265_8213+14267dup (RIF1) | ||
| NM_001271208.2:c.24405+24_24405+26dup (NEB) | NP_001258137.2:n.24405+24_24405+26dup | |
| NM_004543.5:c.18826-1234_18826-1232dup (NEB) | NP_004534.3:n.18826-1234_18826-1232dup | |
| NM_001164507.2:c.24300+24_24300+26dup (NEB) MANE Plus Clinical | NP_001157979.2:n.24300+24_24300+26dup | |
| NM_001164508.2:c.24300+24_24300+26dup (NEB) MANE Select | NP_001157980.2:n.24300+24_24300+26dup |