Linked Data
dbSNP Id:
rs550439555
gnomAD v2:
5-58407714-G-GTA
gnomAD v3:
5-59111887-G-GTA
gnomAD v4:
5-59111887-G-GTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.59111895_59111896dup , CM000667.2:g.59111895_59111896dup | GRCh38 |
| NC_000005.9:g.58407722_58407723dup , CM000667.1:g.58407722_58407723dup | GRCh37 |
| NC_000005.8:g.58443479_58443480dup | NCBI36 |
| NG_027957.1:g.1381210_1381211dup | |
| NG_027957.2:g.1417441_1417442dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507116.6:c.616+68706_616+68707dup | ENSP00000424852.1:n.616+68706_616+68707dup | |
| ENST00000340635.11:c.808+68706_808+68707dup MANE Select | ENSP00000345502.6:n.808+68706_808+68707dup | |
| ENST00000636120.1:c.478+68706_478+68707dup | ENSP00000490821.1:n.478+68706_478+68707dup | |
| ENST00000309641.10:c.617-20764_617-20763dup | ENSP00000308485.6:n.617-20764_617-20763dup | |
| ENST00000340635.10:c.808+68706_808+68707dup | ENSP00000345502.6:n.808+68706_808+68707dup | |
| ENST00000360047.9:c.400+68706_400+68707dup | ENSP00000353152.5:n.400+68706_400+68707dup | |
| ENST00000405053.7:n.471+68706_471+68707dup | ||
| ENST00000405755.6:c.442+68706_442+68707dup | ENSP00000384806.2:n.442+68706_442+68707dup | |
| ENST00000502484.6:c.625+68706_625+68707dup | ENSP00000423094.2:n.625+68706_625+68707dup | |
| ENST00000503258.5:c.418+68706_418+68707dup | ENSP00000425605.1:n.418+68706_418+68707dup | |
| ENST00000505453.1:c.-98-72918_-98-72917dup | ENSP00000421013.1:n.-98-72918_-98-72917dup | |
| ENST00000507116.5:c.616+68706_616+68707dup | ENSP00000424852.1:n.616+68706_616+68707dup | |
| ENST00000546160.5:c.415+68706_415+68707dup | ENSP00000442734.2:n.415+68706_415+68707dup | |
| NM_001104631.1:c.808+68706_808+68707dup | NP_001098101.1:n.808+68706_808+68707dup | |
| NM_001165899.1:c.625+68706_625+68707dup | NP_001159371.1:n.625+68706_625+68707dup | |
| NM_001197218.1:c.616+68706_616+68707dup | NP_001184147.1:n.616+68706_616+68707dup | |
| NM_001197219.1:c.442+68706_442+68707dup | NP_001184148.1:n.442+68706_442+68707dup | |
| NM_001197220.1:c.418+68706_418+68707dup | NP_001184149.1:n.418+68706_418+68707dup | |
| NM_006203.4:c.400+68706_400+68707dup | NP_006194.2:n.400+68706_400+68707dup | |
| XM_005248537.2:c.478+68706_478+68707dup | XP_005248594.1:n.478+68706_478+68707dup | |
| XM_005248538.3:c.400+68706_400+68707dup | XP_005248595.1:n.400+68706_400+68707dup | |
| XM_011543469.1:c.772+68706_772+68707dup | XP_011541771.1:n.772+68706_772+68707dup | |
| XM_011543470.1:c.772+68706_772+68707dup | XP_011541772.1:n.772+68706_772+68707dup | |
| XM_011543471.1:c.625+68706_625+68707dup | XP_011541773.1:n.625+68706_625+68707dup | |
| XM_011543472.1:c.625+68706_625+68707dup | XP_011541774.1:n.625+68706_625+68707dup | |
| XM_011543473.1:c.625+68706_625+68707dup | XP_011541775.1:n.625+68706_625+68707dup | |
| XM_011543474.1:c.595+68706_595+68707dup | XP_011541776.1:n.595+68706_595+68707dup | |
| XM_011543475.1:c.442+68706_442+68707dup | XP_011541777.1:n.442+68706_442+68707dup | |
| XM_011543476.1:c.388+68706_388+68707dup | XP_011541778.1:n.388+68706_388+68707dup | |
| XM_011543477.1:c.367+68706_367+68707dup | XP_011541779.1:n.367+68706_367+68707dup | |
| XM_011543478.1:c.304+68706_304+68707dup | XP_011541780.1:n.304+68706_304+68707dup | |
| XM_011543479.1:c.304+68706_304+68707dup | XP_011541781.1:n.304+68706_304+68707dup | |
| NM_001349241.1:c.595+68706_595+68707dup | NP_001336170.1:n.595+68706_595+68707dup | |
| NM_001349242.1:c.478+68706_478+68707dup | NP_001336171.1:n.478+68706_478+68707dup | |
| NM_001349243.1:c.40+68706_40+68707dup | NP_001336172.1:n.40+68706_40+68707dup | |
| NM_001364599.1:c.625+68706_625+68707dup | NP_001351528.1:n.625+68706_625+68707dup | |
| NM_001364603.1:c.-142-20764_-142-20763dup | NP_001351532.1:n.-142-20764_-142-20763dup | |
| NM_001364604.1:c.40+68706_40+68707dup | NP_001351533.1:n.40+68706_40+68707dup | |
| XM_011543470.2:c.772+68706_772+68707dup | XP_011541772.1:n.772+68706_772+68707dup | |
| XM_011543471.2:c.625+68706_625+68707dup | XP_011541773.1:n.625+68706_625+68707dup | |
| XM_017009565.1:c.772+68706_772+68707dup | XP_016865054.1:n.772+68706_772+68707dup | |
| XM_017009566.1:c.625+68706_625+68707dup | XP_016865055.1:n.625+68706_625+68707dup | |
| XM_017009567.1:c.610+68706_610+68707dup | XP_016865056.1:n.610+68706_610+68707dup | |
| XM_024446110.1:c.772+68706_772+68707dup | XP_024301878.1:n.772+68706_772+68707dup | |
| XM_024446112.1:c.625+68706_625+68707dup | XP_024301880.1:n.625+68706_625+68707dup | |
| NM_001104631.2:c.808+68706_808+68707dup MANE Select | NP_001098101.1:n.808+68706_808+68707dup | |
| NM_001165899.2:c.625+68706_625+68707dup | NP_001159371.1:n.625+68706_625+68707dup | |
| NM_001197218.2:c.616+68706_616+68707dup | NP_001184147.1:n.616+68706_616+68707dup | |
| NM_001197219.2:c.442+68706_442+68707dup | NP_001184148.1:n.442+68706_442+68707dup | |
| NM_001197220.2:c.418+68706_418+68707dup | NP_001184149.1:n.418+68706_418+68707dup | |
| NM_001349241.2:c.595+68706_595+68707dup | NP_001336170.1:n.595+68706_595+68707dup | |
| NM_001349243.2:c.40+68706_40+68707dup | NP_001336172.1:n.40+68706_40+68707dup | |
| NM_001349242.2:c.478+68706_478+68707dup | NP_001336171.1:n.478+68706_478+68707dup | |
| NM_006203.5:c.400+68706_400+68707dup | NP_006194.2:n.400+68706_400+68707dup |