Linked Data
ClinVar Variation Id:
366592
dbSNP Id:
rs377129152
ExAC:
9:32986039 A / AC
gnomAD v2:
9-32986039-A-AC
gnomAD v3:
9-32986041-A-AC
gnomAD v4:
9-32986041-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32986041_32986042insC , CM000671.2:g.32986041_32986042insC | GRCh38 |
| NC_000009.11:g.32986039_32986040insC , CM000671.1:g.32986039_32986040insC | GRCh37 |
| NC_000009.10:g.32976039_32976040insC | NCBI36 |
| NG_012821.1:g.20587_20588insG | |
| NG_012821.2:g.44090_44091insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309615.8:c.322-12_322-11insG | ENSP00000311547.4:n.322-12_322-11insG | |
| ENST00000379817.7:c.484-12_484-11insG MANE Select | ENSP00000369145.2:n.484-12_484-11insG | |
| ENST00000379819.6:c.484-12_484-11insG | ENSP00000369147.2:n.484-12_484-11insG | |
| ENST00000379825.7:c.484-12_484-11insG | ENSP00000369153.3:n.484-12_484-11insG | |
| ENST00000397172.8:c.268-12_268-11insG | ENSP00000380357.4:n.268-12_268-11insG | |
| ENST00000436040.7:c.322-12_322-11insG | ENSP00000400806.4:n.322-12_322-11insG | |
| ENST00000460940.6:c.*329-12_*329-11insG | ENSP00000418311.1:n.*329-12_*329-11insG | |
| ENST00000460945.6:n.658-12_658-11insG | ||
| ENST00000463596.6:c.484-12_484-11insG | ENSP00000419846.1:n.484-12_484-11insG | |
| ENST00000464632.6:c.*214-12_*214-11insG | ENSP00000418069.2:n.*214-12_*214-11insG | |
| ENST00000465003.6:c.*214-12_*214-11insG | ENSP00000419430.2:n.*214-12_*214-11insG | |
| ENST00000467331.6:c.*329-12_*329-11insG | ENSP00000418733.1:n.*329-12_*329-11insG | |
| ENST00000468275.6:c.484-12_484-11insG | ENSP00000420263.2:n.484-12_484-11insG | |
| ENST00000472896.6:c.*278-12_*278-11insG | ENSP00000417804.2:n.*278-12_*278-11insG | |
| ENST00000474658.7:c.134-12_134-11insG | ENSP00000417750.3:n.134-12_134-11insG | |
| ENST00000476858.6:c.322-12_322-11insG | ENSP00000419042.2:n.322-12_322-11insG | |
| ENST00000477119.2:c.367-12_367-11insG | ENSP00000417649.2:n.367-12_367-11insG | |
| ENST00000478279.6:c.*111-12_*111-11insG | ENSP00000419597.2:n.*111-12_*111-11insG | |
| ENST00000479656.6:c.*329-12_*329-11insG | ENSP00000420071.1:n.*329-12_*329-11insG | |
| ENST00000480031.6:c.*278-12_*278-11insG | ENSP00000417684.1:n.*278-12_*278-11insG | |
| ENST00000482687.6:c.*329-12_*329-11insG | ENSP00000419289.2:n.*329-12_*329-11insG | |
| ENST00000483148.6:c.*111-12_*111-11insG | ENSP00000419723.1:n.*111-12_*111-11insG | |
| ENST00000485479.6:c.*205-12_*205-11insG | ENSP00000418144.1:n.*205-12_*205-11insG | |
| ENST00000495360.6:c.*227-12_*227-11insG | ENSP00000419623.2:n.*227-12_*227-11insG | |
| ENST00000496030.2:n.934-12_934-11insG | ||
| ENST00000671774.1:n.82-12_82-11insG | ||
| ENST00000671912.1:c.220-12_220-11insG | ENSP00000500871.1:n.220-12_220-11insG | |
| ENST00000672152.1:n.681-12_681-11insG | ||
| ENST00000672244.1:c.322-12_322-11insG | ENSP00000499875.1:n.322-12_322-11insG | |
| ENST00000672281.1:n.681-12_681-11insG | ||
| ENST00000672286.1:n.745-12_745-11insG | ||
| ENST00000672438.1:c.220-12_220-11insG | ENSP00000499997.1:n.220-12_220-11insG | |
| ENST00000672476.1:n.676-12_676-11insG | ||
| ENST00000672493.1:n.1023-12_1023-11insG | ||
| ENST00000672519.1:c.*329-12_*329-11insG | ENSP00000500320.1:n.*329-12_*329-11insG | |
| ENST00000672535.1:c.*214-12_*214-11insG | ENSP00000499872.1:n.*214-12_*214-11insG | |
| ENST00000672615.1:n.561-12_561-11insG | ||
| ENST00000672846.1:c.*214-12_*214-11insG | ENSP00000500396.1:n.*214-12_*214-11insG | |
| ENST00000673114.1:n.348-12_348-11insG | ||
| ENST00000673171.1:n.561-12_561-11insG | ||
| ENST00000673211.1:n.566-12_566-11insG | ||
| ENST00000673248.1:c.220-12_220-11insG | ENSP00000500601.1:n.220-12_220-11insG | |
| ENST00000673333.1:n.762-12_762-11insG | ||
| ENST00000673360.1:c.134-12_134-11insG | ENSP00000500360.1:n.134-12_134-11insG | |
| ENST00000673416.1:c.220-12_220-11insG | ENSP00000500738.1:n.220-12_220-11insG | |
| ENST00000673485.1:n.681-12_681-11insG | ||
| ENST00000673487.1:c.*214-12_*214-11insG | ENSP00000500943.1:n.*214-12_*214-11insG | |
| ENST00000673598.1:c.-39-12_-39-11insG | ENSP00000499991.1:n.-39-12_-39-11insG | |
| ENST00000309615.7:c.322-12_322-11insG | ENSP00000311547.4:n.322-12_322-11insG | |
| ENST00000379812.9:c.310-12_310-11insG | ENSP00000369140.5:n.310-12_310-11insG | |
| ENST00000379813.7:c.526-1185_526-1184insG | ENSP00000369141.4:n.526-1185_526-1184insG | |
| ENST00000379817.6:c.484-12_484-11insG | ENSP00000369145.2:n.484-12_484-11insG | |
| ENST00000379819.5:c.526-12_526-11insG | ENSP00000369147.1:n.526-12_526-11insG | |
| ENST00000379825.6:c.526-12_526-11insG | ENSP00000369153.2:n.526-12_526-11insG | |
| ENST00000397172.7:c.310-12_310-11insG | ENSP00000380357.3:n.310-12_310-11insG | |
| ENST00000436040.6:c.484-12_484-11insG | ENSP00000400806.3:n.484-12_484-11insG | |
| ENST00000460940.5:c.*329-12_*329-11insG | ENSP00000418311.1:n.*329-12_*329-11insG | |
| ENST00000463596.5:c.484-12_484-11insG | ENSP00000419846.1:n.484-12_484-11insG | |
| ENST00000464632.5:c.*214-12_*214-11insG | ENSP00000418069.1:n.*214-12_*214-11insG | |
| ENST00000465003.5:c.*111-12_*111-11insG | ENSP00000419430.1:n.*111-12_*111-11insG | |
| ENST00000467331.5:c.*329-12_*329-11insG | ENSP00000418733.1:n.*329-12_*329-11insG | |
| ENST00000468275.5:c.484-12_484-11insG | ENSP00000420263.1:n.484-12_484-11insG | |
| ENST00000472896.5:c.*214-12_*214-11insG | ENSP00000417804.1:n.*214-12_*214-11insG | |
| ENST00000473221.5:c.364-12_364-11insG | ENSP00000419020.1:n.364-12_364-11insG | |
| ENST00000474658.6:c.151-12_151-11insG | ||
| ENST00000476858.5:c.364-12_364-11insG | ENSP00000419042.1:n.364-12_364-11insG | |
| ENST00000477119.1:c.322-12_322-11insG | ENSP00000417649.1:n.322-12_322-11insG | |
| ENST00000478279.5:c.*111-12_*111-11insG | ENSP00000419597.1:n.*111-12_*111-11insG | |
| ENST00000479656.5:c.*329-12_*329-11insG | ENSP00000420071.1:n.*329-12_*329-11insG | |
| ENST00000480031.5:c.*278-12_*278-11insG | ENSP00000417684.1:n.*278-12_*278-11insG | |
| ENST00000482687.5:c.484-12_484-11insG | ENSP00000419289.1:n.484-12_484-11insG | |
| ENST00000483148.5:c.*111-12_*111-11insG | ENSP00000419723.1:n.*111-12_*111-11insG | |
| ENST00000485479.5:c.*214-12_*214-11insG | ENSP00000418144.1:n.*214-12_*214-11insG | |
| ENST00000486724.5:n.220-12_220-11insG | ||
| ENST00000494649.5:c.*329-12_*329-11insG | ENSP00000417634.1:n.*329-12_*329-11insG | |
| ENST00000495360.5:c.*214-12_*214-11insG | ENSP00000419623.1:n.*214-12_*214-11insG | |
| ENST00000496030.1:n.592-12_592-11insG | ||
| NM_001195248.1:c.526-12_526-11insG | NP_001182177.1:n.526-12_526-11insG | |
| NM_001195249.1:c.484-12_484-11insG | NP_001182178.1:n.484-12_484-11insG | |
| NM_001195250.1:c.364-12_364-11insG | NP_001182179.1:n.364-12_364-11insG | |
| NM_001195251.1:c.484-12_484-11insG | NP_001182180.1:n.484-12_484-11insG | |
| NM_001195252.1:c.310-12_310-11insG | NP_001182181.1:n.310-12_310-11insG | |
| NM_001195254.1:c.322-12_322-11insG | NP_001182183.1:n.322-12_322-11insG | |
| NM_175069.2:c.526-12_526-11insG | NP_778239.1:n.526-12_526-11insG | |
| NM_175073.2:c.484-12_484-11insG | NP_778243.1:n.484-12_484-11insG | |
| NR_036576.1:n.558-12_558-11insG | ||
| NR_036577.1:n.448-12_448-11insG | ||
| NR_036578.1:n.580-12_580-11insG | ||
| NR_036579.1:n.727-12_727-11insG | ||
| XM_006716791.2:c.484-12_484-11insG | XP_006716854.1:n.484-12_484-11insG | |
| XM_006716792.2:c.220-12_220-11insG | XP_006716855.1:n.220-12_220-11insG | |
| XM_011517936.1:c.220-12_220-11insG | XP_011516238.1:n.220-12_220-11insG | |
| XM_011517937.1:c.220-12_220-11insG | XP_011516239.1:n.220-12_220-11insG | |
| XM_011517938.1:c.220-12_220-11insG | XP_011516240.1:n.220-12_220-11insG | |
| XM_011517939.1:c.220-12_220-11insG | XP_011516241.1:n.220-12_220-11insG | |
| XR_428423.2:n.563-12_563-11insG | ||
| XR_929276.1:n.563-12_563-11insG | ||
| XR_929277.1:n.563-12_563-11insG | ||
| XR_929279.1:n.563-12_563-11insG | ||
| XM_006716791.4:c.484-12_484-11insG | XP_006716854.1:n.484-12_484-11insG | |
| XM_006716792.3:c.220-12_220-11insG | XP_006716855.1:n.220-12_220-11insG | |
| XM_011517938.2:c.220-12_220-11insG | XP_011516240.1:n.220-12_220-11insG | |
| XM_011517939.3:c.220-12_220-11insG | XP_011516241.1:n.220-12_220-11insG | |
| XM_017014831.1:c.526-12_526-11insG | XP_016870320.1:n.526-12_526-11insG | |
| XM_017014832.1:c.526-12_526-11insG | XP_016870321.1:n.526-12_526-11insG | |
| XM_017014833.2:c.526-12_526-11insG | XP_016870322.1:n.526-12_526-11insG | |
| XM_017014836.2:c.526-12_526-11insG | XP_016870325.1:n.526-12_526-11insG | |
| XM_017014837.2:c.322-12_322-11insG | XP_016870326.1:n.322-12_322-11insG | |
| XM_017014838.1:c.220-12_220-11insG | XP_016870327.1:n.220-12_220-11insG | |
| XM_024447575.1:c.484-12_484-11insG | XP_024303343.1:n.484-12_484-11insG | |
| XM_024447576.1:c.484-12_484-11insG | XP_024303344.1:n.484-12_484-11insG | |
| XM_024447577.1:c.484-12_484-11insG | XP_024303345.1:n.484-12_484-11insG | |
| XM_024447578.1:c.526-12_526-11insG | XP_024303346.1:n.526-12_526-11insG | |
| XM_024447579.1:c.484-12_484-11insG | XP_024303347.1:n.484-12_484-11insG | |
| XM_024447580.1:c.322-12_322-11insG | XP_024303348.1:n.322-12_322-11insG | |
| XM_024447581.1:c.220-12_220-11insG | XP_024303349.1:n.220-12_220-11insG | |
| XM_024447582.1:c.220-12_220-11insG | XP_024303350.1:n.220-12_220-11insG | |
| XR_001746325.2:n.563-12_563-11insG | ||
| XR_001746326.2:n.571-12_571-11insG | ||
| XR_428423.3:n.563-12_563-11insG | ||
| XR_929276.3:n.563-12_563-11insG | ||
| XR_929277.3:n.563-12_563-11insG | ||
| NM_001195248.2:c.484-12_484-11insG MANE Select | NP_001182177.2:n.484-12_484-11insG | |
| NM_001195250.2:c.322-12_322-11insG | NP_001182179.2:n.322-12_322-11insG | |
| NM_001195252.2:c.268-12_268-11insG | NP_001182181.2:n.268-12_268-11insG | |
| NM_001368995.1:c.484-12_484-11insG | NP_001355924.1:n.484-12_484-11insG | |
| NM_001368996.1:c.484-12_484-11insG | NP_001355925.1:n.484-12_484-11insG | |
| NM_001368997.1:c.484-12_484-11insG | NP_001355926.1:n.484-12_484-11insG | |
| NM_001368998.1:c.484-12_484-11insG | NP_001355927.1:n.484-12_484-11insG | |
| NM_001368999.1:c.484-12_484-11insG | NP_001355928.1:n.484-12_484-11insG | |
| NM_001369000.1:c.322-12_322-11insG | NP_001355929.1:n.322-12_322-11insG | |
| NM_001369001.1:c.322-12_322-11insG | NP_001355930.1:n.322-12_322-11insG | |
| NM_001369002.1:c.220-12_220-11insG | NP_001355931.1:n.220-12_220-11insG | |
| NM_001369003.1:c.220-12_220-11insG | NP_001355932.1:n.220-12_220-11insG | |
| NM_001369004.1:c.220-12_220-11insG | NP_001355933.1:n.220-12_220-11insG | |
| NM_001369005.1:c.220-12_220-11insG | NP_001355934.1:n.220-12_220-11insG | |
| NM_001369006.1:c.220-12_220-11insG | NP_001355935.1:n.220-12_220-11insG | |
| NM_001370669.1:c.220-12_220-11insG | NP_001357598.1:n.220-12_220-11insG | |
| NM_001370670.1:c.220-12_220-11insG | NP_001357599.1:n.220-12_220-11insG | |
| NM_001370673.1:c.220-12_220-11insG | NP_001357602.1:n.220-12_220-11insG | |
| NM_175069.3:c.484-12_484-11insG | NP_778239.2:n.484-12_484-11insG | |
| NR_160920.1:n.550-12_550-11insG | ||
| NR_160921.1:n.454-12_454-11insG | ||
| NR_160922.1:n.685-12_685-11insG | ||
| NR_160923.1:n.489-12_489-11insG | ||
| NR_160924.1:n.494-12_494-11insG | ||
| NR_160925.1:n.690-12_690-11insG | ||
| NR_160926.1:n.480-12_480-11insG | ||
| NR_160927.1:n.800-12_800-11insG | ||
| NR_160928.1:n.690-12_690-11insG | ||
| NR_160929.1:n.604-12_604-11insG | ||
| NR_160930.1:n.430-12_430-11insG | ||
| NR_160931.1:n.669-12_669-11insG | ||
| NM_001195249.2:c.484-12_484-11insG | NP_001182178.1:n.484-12_484-11insG | |
| NM_001195251.2:c.484-12_484-11insG | NP_001182180.1:n.484-12_484-11insG | |
| NM_001195254.2:c.322-12_322-11insG | NP_001182183.1:n.322-12_322-11insG | |
| NM_175073.3:c.484-12_484-11insG | NP_778243.1:n.484-12_484-11insG | |
| NR_036577.2:n.435-12_435-11insG |