Linked Data
ClinVar Variation Id:
536422
ClinVar RCV Id:
RCV000644870
dbSNP Id:
rs777871013
ExAC:
1:120279897 T / TCCTGG
gnomAD v2:
1-120279897-T-TCCTGG
gnomAD v3:
1-119737274-T-TCCTGG
gnomAD v4:
1-119737274-T-TCCTGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119737275_119737276insCTGGC , CM000663.2:g.119737275_119737276insCTGGC | GRCh38 |
| NC_000001.10:g.120279898_120279899insCTGGC , CM000663.1:g.120279898_120279899insCTGGC | GRCh37 |
| NC_000001.9:g.120081421_120081422insCTGGC | NCBI36 |
| NG_009188.1:g.30480_30481insCTGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.945+9_945+10insCTGGC | ENSP00000358417.5:n.945+9_945+10insCTGGC | |
| ENST00000641023.2:c.945+9_945+10insCTGGC MANE Select | ENSP00000493175.1:n.945+9_945+10insCTGGC | |
| ENST00000641074.1:c.945+9_945+10insCTGGC | ENSP00000493446.1:n.945+9_945+10insCTGGC | |
| ENST00000641115.1:c.945+9_945+10insCTGGC | ENSP00000493264.1:n.945+9_945+10insCTGGC | |
| ENST00000641213.1:c.*598+9_*598+10insCTGGC | ENSP00000493079.1:n.*598+9_*598+10insCTGGC | |
| ENST00000641314.1:n.930+9_930+10insCTGGC | ||
| ENST00000641375.1:c.*781+9_*781+10insCTGGC | ENSP00000493089.1:n.*781+9_*781+10insCTGGC | |
| ENST00000641597.1:c.945+9_945+10insCTGGC | ENSP00000493382.1:n.945+9_945+10insCTGGC | |
| ENST00000641756.1:c.*689+9_*689+10insCTGGC | ENSP00000493147.1:n.*689+9_*689+10insCTGGC | |
| ENST00000641811.1:c.701+9_701+10insCTGGC | ||
| ENST00000641891.1:c.*771+9_*771+10insCTGGC | ENSP00000493288.1:n.*771+9_*771+10insCTGGC | |
| ENST00000641927.1:n.885+9_885+10insCTGGC | ||
| ENST00000641939.1:n.48+9_48+10insCTGGC | ||
| ENST00000641947.1:c.945+9_945+10insCTGGC | ENSP00000492994.1:n.945+9_945+10insCTGGC | |
| ENST00000642021.1:n.1067+9_1067+10insCTGGC | ||
| ENST00000369407.3:c.843+9_843+10insCTGGC | ENSP00000358415.3:n.843+9_843+10insCTGGC | |
| ENST00000369409.8:c.945+9_945+10insCTGGC | ENSP00000358417.4:n.945+9_945+10insCTGGC | |
| NM_006623.3:c.945+9_945+10insCTGGC | NP_006614.2:n.945+9_945+10insCTGGC | |
| XM_011541226.1:c.1167+9_1167+10insCTGGC | XP_011539528.1:n.1167+9_1167+10insCTGGC | |
| XM_011541227.1:c.1089+9_1089+10insCTGGC | XP_011539529.1:n.1089+9_1089+10insCTGGC | |
| XM_011541228.1:c.1056+9_1056+10insCTGGC | XP_011539530.1:n.1056+9_1056+10insCTGGC | |
| XM_011541229.1:c.882+9_882+10insCTGGC | XP_011539531.1:n.882+9_882+10insCTGGC | |
| XM_011541230.1:c.660+9_660+10insCTGGC | XP_011539532.1:n.660+9_660+10insCTGGC | |
| XM_011541231.1:c.651+9_651+10insCTGGC | XP_011539533.1:n.651+9_651+10insCTGGC | |
| XM_011541226.2:c.1167+9_1167+10insCTGGC | XP_011539528.1:n.1167+9_1167+10insCTGGC | |
| XM_011541227.2:c.1089+9_1089+10insCTGGC | XP_011539529.1:n.1089+9_1089+10insCTGGC | |
| XM_011541228.2:c.1056+9_1056+10insCTGGC | XP_011539530.1:n.1056+9_1056+10insCTGGC | |
| XM_011541231.2:c.651+9_651+10insCTGGC | XP_011539533.1:n.651+9_651+10insCTGGC | |
| XM_024446338.1:c.1056+9_1056+10insCTGGC | XP_024302106.1:n.1056+9_1056+10insCTGGC | |
| NM_006623.4:c.945+9_945+10insCTGGC MANE Select | NP_006614.2:n.945+9_945+10insCTGGC |