Linked Data
dbSNP Id:
rs1460704744
gnomAD v2:
1-120280064-T-TCG
gnomAD v3:
1-119737441-T-TCG
gnomAD v4:
1-119737441-T-TCG
MyVariant Identifiers:
chr1:g.120280064_120280065insCG (hg19)
chr1:g.119737441_119737442insCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119737442_119737443insGC , CM000663.2:g.119737442_119737443insGC | GRCh38 |
| NC_000001.10:g.120280065_120280066insGC , CM000663.1:g.120280065_120280066insGC | GRCh37 |
| NC_000001.9:g.120081588_120081589insGC | NCBI36 |
| NG_009188.1:g.30647_30648insGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.945+176_945+177insGC | ENSP00000358417.5:n.945+176_945+177insGC | |
| ENST00000641023.2:c.945+176_945+177insGC MANE Select | ENSP00000493175.1:n.945+176_945+177insGC | |
| ENST00000641074.1:c.945+176_945+177insGC | ENSP00000493446.1:n.945+176_945+177insGC | |
| ENST00000641115.1:c.945+176_945+177insGC | ENSP00000493264.1:n.945+176_945+177insGC | |
| ENST00000641213.1:c.*598+176_*598+177insGC | ENSP00000493079.1:n.*598+176_*598+177insGC | |
| ENST00000641314.1:n.930+176_930+177insGC | ||
| ENST00000641375.1:c.*781+176_*781+177insGC | ENSP00000493089.1:n.*781+176_*781+177insGC | |
| ENST00000641597.1:c.945+176_945+177insGC | ENSP00000493382.1:n.945+176_945+177insGC | |
| ENST00000641756.1:c.*689+176_*689+177insGC | ENSP00000493147.1:n.*689+176_*689+177insGC | |
| ENST00000641811.1:c.701+176_701+177insGC | ||
| ENST00000641891.1:c.*771+176_*771+177insGC | ENSP00000493288.1:n.*771+176_*771+177insGC | |
| ENST00000641927.1:n.885+176_885+177insGC | ||
| ENST00000641939.1:n.48+176_48+177insGC | ||
| ENST00000641947.1:c.945+176_945+177insGC | ENSP00000492994.1:n.945+176_945+177insGC | |
| ENST00000642021.1:n.1067+176_1067+177insGC | ||
| ENST00000369407.3:c.843+176_843+177insGC | ENSP00000358415.3:n.843+176_843+177insGC | |
| ENST00000369409.8:c.945+176_945+177insGC | ENSP00000358417.4:n.945+176_945+177insGC | |
| NM_006623.3:c.945+176_945+177insGC | NP_006614.2:n.945+176_945+177insGC | |
| XM_011541226.1:c.1167+176_1167+177insGC | XP_011539528.1:n.1167+176_1167+177insGC | |
| XM_011541227.1:c.1089+176_1089+177insGC | XP_011539529.1:n.1089+176_1089+177insGC | |
| XM_011541228.1:c.1056+176_1056+177insGC | XP_011539530.1:n.1056+176_1056+177insGC | |
| XM_011541229.1:c.882+176_882+177insGC | XP_011539531.1:n.882+176_882+177insGC | |
| XM_011541230.1:c.660+176_660+177insGC | XP_011539532.1:n.660+176_660+177insGC | |
| XM_011541231.1:c.651+176_651+177insGC | XP_011539533.1:n.651+176_651+177insGC | |
| XM_011541226.2:c.1167+176_1167+177insGC | XP_011539528.1:n.1167+176_1167+177insGC | |
| XM_011541227.2:c.1089+176_1089+177insGC | XP_011539529.1:n.1089+176_1089+177insGC | |
| XM_011541228.2:c.1056+176_1056+177insGC | XP_011539530.1:n.1056+176_1056+177insGC | |
| XM_011541231.2:c.651+176_651+177insGC | XP_011539533.1:n.651+176_651+177insGC | |
| XM_024446338.1:c.1056+176_1056+177insGC | XP_024302106.1:n.1056+176_1056+177insGC | |
| NM_006623.4:c.945+176_945+177insGC MANE Select | NP_006614.2:n.945+176_945+177insGC |