Linked Data
dbSNP Id:
rs1554093843
gnomAD v3:
5-151279266-C-CGAGGACTCCCTGGCTCGGCCAGGCTG
gnomAD v4:
5-151279266-C-CGAGGACTCCCTGGCTCGGCCAGGCTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151279266_151279267insGAGGACTCCCTGGCTCGGCCAGGCTG , CM000667.2:g.151279266_151279267insGAGGACTCCCTGGCTCGGCCAGGCTG | GRCh38 |
| NC_000005.9:g.150658827_150658828insGAGGACTCCCTGGCTCGGCCAGGCTG , CM000667.1:g.150658827_150658828insGAGGACTCCCTGGCTCGGCCAGGCTG | GRCh37 |
| NC_000005.8:g.150639020_150639021insGAGGACTCCCTGGCTCGGCCAGGCTG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335230.8:c.1145-1606_1145-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC MANE Select | ENSP00000334750.3:n.1145-1606_1145-1605insCAGCCTGGCCGAGCCAGGG... | |
| ENST00000335230.7:c.1145-1606_1145-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | ENSP00000334750.3:n.1145-1606_1145-1605insCAGCCTGGCCGAGCCAGGG... | |
| ENST00000377713.3:c.1268-1606_1268-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | ENSP00000366942.3:n.1268-1606_1268-1605insCAGCCTGGCCGAGCCAGGG... | |
| ENST00000423071.2:n.3045-1606_3045-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | ||
| NM_001145017.1:c.1268-1606_1268-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | NP_001138489.1:n.1268-1606_1268-1605insCAGCCTGGCCGAGCCAGGGAGT... | |
| NM_181774.3:c.1145-1606_1145-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | NP_861439.3:n.1145-1606_1145-1605insCAGCCTGGCCGAGCCAGGGAGTCCT... | |
| XM_006714781.1:c.995-1606_995-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | XP_006714844.1:n.995-1606_995-1605insCAGCCTGGCCGAGCCAGGGAGTCC... | |
| XM_011537626.1:c.1139-1606_1139-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | XP_011535928.1:n.1139-1606_1139-1605insCAGCCTGGCCGAGCCAGGGAGT... | |
| XM_011537627.1:c.1067-1606_1067-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | XP_011535929.1:n.1067-1606_1067-1605insCAGCCTGGCCGAGCCAGGGAGT... | |
| XM_011537628.1:c.1001-1606_1001-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | XP_011535930.1:n.1001-1606_1001-1605insCAGCCTGGCCGAGCCAGGGAGT... | |
| XM_011537629.1:c.975-1606_975-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | XP_011535931.1:n.975-1606_975-1605insCAGCCTGGCCGAGCCAGGGAGTCC... | |
| XM_011537630.1:c.800-1606_800-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | XP_011535932.1:n.800-1606_800-1605insCAGCCTGGCCGAGCCAGGGAGTCC... | |
| XM_011537631.1:c.800-1606_800-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | XP_011535933.1:n.800-1606_800-1605insCAGCCTGGCCGAGCCAGGGAGTCC... | |
| XM_011537632.1:c.800-1606_800-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | XP_011535934.1:n.800-1606_800-1605insCAGCCTGGCCGAGCCAGGGAGTCC... | |
| XM_011537633.1:c.656-1606_656-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | XP_011535935.1:n.656-1606_656-1605insCAGCCTGGCCGAGCCAGGGAGTCC... | |
| XR_427775.1:n.1593-1606_1593-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | ||
| XM_011537627.3:c.1067-1606_1067-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | XP_011535929.1:n.1067-1606_1067-1605insCAGCCTGGCCGAGCCAGGGAGT... | |
| XM_011537629.3:c.975-1606_975-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | XP_011535931.1:n.975-1606_975-1605insCAGCCTGGCCGAGCCAGGGAGTCC... | |
| XM_011537630.2:c.800-1606_800-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | XP_011535932.1:n.800-1606_800-1605insCAGCCTGGCCGAGCCAGGGAGTCC... | |
| XM_011537631.2:c.800-1606_800-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | XP_011535933.1:n.800-1606_800-1605insCAGCCTGGCCGAGCCAGGGAGTCC... | |
| XR_427775.3:n.1577-1606_1577-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | ||
| NM_001145017.2:c.1268-1606_1268-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC | NP_001138489.1:n.1268-1606_1268-1605insCAGCCTGGCCGAGCCAGGGAGT... | |
| NM_181774.4:c.1145-1606_1145-1605insCAGCCTGGCCGAGCCAGGGAGTCCTC MANE Select | NP_861439.3:n.1145-1606_1145-1605insCAGCCTGGCCGAGCCAGGGAGTCCT... |