Linked Data
dbSNP Id:
rs1707998737
gnomAD v3:
3-120670388-T-TGGGAATATGATAAGCTTC
gnomAD v4:
3-120670388-T-TGGGAATATGATAAGCTTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120670391_120670392insAATATGATAAGCTTCGGG , CM000665.2:g.120670391_120670392insAATATGATAAGCTTCGGG | GRCh38 |
| NC_000003.11:g.120389238_120389239insAATATGATAAGCTTCGGG , CM000665.1:g.120389238_120389239insAATATGATAAGCTTCGGG | GRCh37 |
| NC_000003.10:g.121871928_121871929insAATATGATAAGCTTCGGG | NCBI36 |
| NG_011957.1:g.17093_17094insGAAGCTTATCATATTCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.282+38_282+39insGAAGCTTATCATATTCCC MANE Select | ENSP00000283871.5:n.282+38_282+39insGAAGCTTATCATATTCCC | |
| ENST00000283871.9:c.282+38_282+39insGAAGCTTATCATATTCCC | ENSP00000283871.5:n.282+38_282+39insGAAGCTTATCATATTCCC | |
| ENST00000466528.5:n.346_347insGAAGCTTATCATATTCCC | ||
| ENST00000476082.2:c.159+38_159+39insGAAGCTTATCATATTCCC | ENSP00000419560.2:n.159+38_159+39insGAAGCTTATCATATTCCC | |
| ENST00000485313.5:n.390+38_390+39insGAAGCTTATCATATTCCC | ||
| ENST00000488183.5:n.540+38_540+39insGAAGCTTATCATATTCCC | ||
| NM_000187.3:c.282+38_282+39insGAAGCTTATCATATTCCC | NP_000178.2:n.282+38_282+39insGAAGCTTATCATATTCCC | |
| XM_005247412.1:c.282+38_282+39insGAAGCTTATCATATTCCC | XP_005247469.1:n.282+38_282+39insGAAGCTTATCATATTCCC | |
| XM_005247413.1:c.282+38_282+39insGAAGCTTATCATATTCCC | XP_005247470.1:n.282+38_282+39insGAAGCTTATCATATTCCC | |
| XM_005247414.3:c.282+38_282+39insGAAGCTTATCATATTCCC | XP_005247471.1:n.282+38_282+39insGAAGCTTATCATATTCCC | |
| XM_011512746.1:c.282+38_282+39insGAAGCTTATCATATTCCC | XP_011511048.1:n.282+38_282+39insGAAGCTTATCATATTCCC | |
| XM_005247412.2:c.282+38_282+39insGAAGCTTATCATATTCCC | XP_005247469.1:n.282+38_282+39insGAAGCTTATCATATTCCC | |
| XM_005247413.2:c.282+38_282+39insGAAGCTTATCATATTCCC | XP_005247470.1:n.282+38_282+39insGAAGCTTATCATATTCCC | |
| XM_005247414.5:c.282+38_282+39insGAAGCTTATCATATTCCC | XP_005247471.1:n.282+38_282+39insGAAGCTTATCATATTCCC | |
| XM_011512746.2:c.282+38_282+39insGAAGCTTATCATATTCCC | XP_011511048.1:n.282+38_282+39insGAAGCTTATCATATTCCC | |
| XM_017006277.2:c.-142+38_-142+39insGAAGCTTATCATATTCCC | XP_016861766.1:n.-142+38_-142+39insGAAGCTTATCATATTCCC | |
| NM_000187.4:c.282+38_282+39insGAAGCTTATCATATTCCC MANE Select | NP_000178.2:n.282+38_282+39insGAAGCTTATCATATTCCC |