Linked Data
dbSNP Id:
rs767960999
ExAC:
8:94792776 C / CT
gnomAD v2:
8-94792776-C-CT
gnomAD v3:
8-93780548-C-CT
gnomAD v4:
8-93780548-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93780549dup , CM000670.2:g.93780549dup | GRCh38 |
| NC_000008.10:g.94792777dup , CM000670.1:g.94792777dup | GRCh37 |
| NC_000008.9:g.94861953dup | NCBI36 |
| NG_009190.1:g.30706dup , LRG_688:g.30706dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.715-44dup | ENSP00000314488.4:n.715-44dup | |
| ENST00000409623.8:c.715-44dup | ENSP00000386966.4:n.715-44dup | |
| ENST00000452276.6:c.715-44dup | ENSP00000388671.2:n.715-44dup | |
| ENST00000453906.6:c.407-5674dup | ENSP00000403035.2:n.407-5674dup | |
| ENST00000520680.2:c.715-44dup | ENSP00000428785.2:n.715-44dup | |
| ENST00000521065.2:c.*432-44dup | ENSP00000427947.2:n.*432-44dup | |
| ENST00000521517.6:c.715-44dup | ENSP00000430740.2:n.715-44dup | |
| ENST00000681998.1:c.645-44dup | ENSP00000506773.1:n.645-44dup | |
| ENST00000682036.1:c.407-5674dup | ENSP00000508390.1:n.407-5674dup | |
| ENST00000682577.1:c.645-44dup | ENSP00000506963.1:n.645-44dup | |
| ENST00000682624.1:c.*289-44dup | ENSP00000508343.1:n.*289-44dup | |
| ENST00000682700.1:c.715-44dup | ENSP00000507627.1:n.715-44dup | |
| ENST00000682744.1:n.209dup | ||
| ENST00000682804.1:n.538-44dup | ||
| ENST00000682837.1:c.470-44dup | ENSP00000507920.1:n.470-44dup | |
| ENST00000682935.1:n.2275-44dup | ||
| ENST00000682984.1:c.376-44dup | ENSP00000507209.1:n.376-44dup | |
| ENST00000683078.1:c.470-44dup | ENSP00000506796.1:n.470-44dup | |
| ENST00000683223.1:c.556-44dup | ENSP00000507685.1:n.556-44dup | |
| ENST00000683238.1:n.2096-44dup | ||
| ENST00000683249.1:n.2296-44dup | ||
| ENST00000683336.1:c.645-44dup | ENSP00000507695.1:n.645-44dup | |
| ENST00000683362.1:c.376-44dup | ENSP00000506985.1:n.376-44dup | |
| ENST00000683850.1:n.638-44dup | ||
| ENST00000683919.1:c.645-44dup | ENSP00000507617.1:n.645-44dup | |
| ENST00000683953.1:c.626-44dup | ENSP00000508375.1:n.626-44dup | |
| ENST00000684023.1:c.849-44dup | ENSP00000507461.1:n.849-44dup | |
| ENST00000684064.1:c.406-44dup | ENSP00000508192.1:n.406-44dup | |
| ENST00000684089.1:n.2265-44dup | ||
| ENST00000684149.1:c.*51-44dup | ENSP00000507943.1:n.*51-44dup | |
| ENST00000684416.1:n.674-44dup | ||
| ENST00000684540.1:c.645-44dup | ENSP00000507987.1:n.645-44dup | |
| ENST00000453321.8:c.715-44dup MANE Select | ENSP00000389998.3:n.715-44dup | |
| ENST00000323130.7:c.685-44dup | ENSP00000314488.3:n.685-44dup | |
| ENST00000409623.7:c.472-44dup | ENSP00000386966.3:n.472-44dup | |
| ENST00000425545.2:n.162-44dup | ||
| ENST00000452276.5:c.406-44dup | ENSP00000388671.1:n.406-44dup | |
| ENST00000453321.7:c.715-44dup | ENSP00000389998.3:n.715-44dup | |
| ENST00000453906.5:c.407-5674dup | ENSP00000403035.1:n.407-5674dup | |
| ENST00000474944.5:n.427-5674dup | ||
| ENST00000496213.5:n.180-44dup | ||
| NM_001142301.1:c.472-44dup , LRG_688t2:c.472-44dup | NP_001135773.1:n.472-44dup | |
| NM_153704.5:c.715-44dup , LRG_688t1:c.715-44dup | NP_714915.3:n.715-44dup | |
| NR_024522.1:n.786-44dup | ||
| XM_006716686.2:c.412-44dup | XP_006716749.1:n.412-44dup | |
| XM_006716687.2:c.115-44dup | XP_006716750.1:n.115-44dup | |
| XM_011517363.1:c.407-5674dup | XP_011515665.1:n.407-5674dup | |
| XR_428387.1:n.773-44dup | ||
| XR_928360.1:n.773-44dup | ||
| XR_928361.1:n.773-44dup | ||
| XR_928362.1:n.773-44dup | ||
| XM_006716686.4:c.412-44dup | XP_006716749.1:n.412-44dup | |
| XM_011517363.3:c.407-5674dup | XP_011515665.1:n.407-5674dup | |
| XM_024447326.1:c.61-44dup | XP_024303094.1:n.61-44dup | |
| XR_001745619.2:n.756-44dup | ||
| XR_428387.2:n.756-44dup | ||
| XR_928360.3:n.756-44dup | ||
| XR_928362.3:n.756-44dup | ||
| NM_153704.6:c.715-44dup MANE Select | NP_714915.3:n.715-44dup | |
| NR_024522.2:n.736-44dup |