Linked Data
dbSNP Id:
rs377247972
MyVariant Identifiers:
chr7:g.44184769_44184770insCCCC (hg19)
chr7:g.44145170_44145171insCCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145172_44145173insCCCC , CM000669.2:g.44145172_44145173insCCCC | GRCh38 |
| NC_000007.13:g.44184771_44184772insCCCC , CM000669.1:g.44184771_44184772insCCCC | GRCh37 |
| NC_000007.12:g.44151296_44151297insCCCC | NCBI36 |
| NG_008847.1:g.49253_49254insGGGG | |
| NG_008847.2:g.58000_58001insGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1361_*1362insGGGG | ENSP00000379142.4:n.*1361_*1362insGGGG | |
| ENST00000616242.5:c.*483_*484insGGGG | ENSP00000482149.2:n.*483_*484insGGGG | |
| ENST00000683378.1:n.589_590insGGGG | ||
| ENST00000336642.9:c.397_398insGGGG | ENSP00000338009.5:p.Val133GlyfsTer5 | |
| ENST00000345378.7:c.1366_1367insGGGG | ENSP00000223366.2:p.Val456GlyfsTer5 | |
| ENST00000403799.8:c.1363_1364insGGGG MANE Select | ENSP00000384247.3:p.Val455GlyfsTer5 | |
| ENST00000671824.1:c.1426_1427insGGGG | ENSP00000500264.1:p.Val476GlyfsTer5 | |
| ENST00000672743.1:n.375_376insGGGG | ||
| ENST00000673284.1:c.1363_1364insGGGG | ENSP00000499852.1:p.Val455GlyfsTer18 | |
| ENST00000336642.8:c.415_416insGGGG | ENSP00000338009.4:p.Val139GlyfsTer5 | |
| ENST00000345378.6:c.1366_1367insGGGG | ENSP00000223366.2:p.Val456GlyfsTer5 | |
| ENST00000395796.7:c.1360_1361insGGGG | ENSP00000379142.3:p.Val454GlyfsTer5 | |
| ENST00000403799.7:c.1363_1364insGGGG | ENSP00000384247.3:p.Val455GlyfsTer5 | |
| ENST00000437084.1:c.1312_1313insGGGG | ENSP00000402840.1:p.Val438GlyfsTer5 | |
| ENST00000459642.1:n.743_744insGGGG | ||
| ENST00000616242.4:c.1360_1361insGGGG | ENSP00000482149.1:p.Val454GlyfsTer5 | |
| NM_000162.3:c.1363_1364insGGGG | NP_000153.1:p.Val455GlyfsTer5 | |
| NM_033507.1:c.1366_1367insGGGG | NP_277042.1:p.Val456GlyfsTer5 | |
| NM_033508.1:c.1360_1361insGGGG | NP_277043.1:p.Val454GlyfsTer5 | |
| NM_000162.4:c.1363_1364insGGGG | NP_000153.1:p.Val455GlyfsTer5 | |
| NM_001354800.1:c.1363_1364insGGGG | NP_001341729.1:p.Val455GlyfsTer18 | |
| NM_001354801.1:c.352_353insGGGG | NP_001341730.1:p.Val118GlyfsTer5 | |
| NM_001354802.1:c.223_224insGGGG | NP_001341731.1:p.Val75GlyfsTer18 | |
| NM_001354803.1:c.397_398insGGGG | NP_001341732.1:p.Val133GlyfsTer5 | |
| NM_033507.2:c.1366_1367insGGGG | NP_277042.1:p.Val456GlyfsTer5 | |
| NM_033508.2:c.1360_1361insGGGG | NP_277043.1:p.Val454GlyfsTer5 | |
| XM_024446707.1:c.223_224insGGGG | XP_024302475.1:p.Val75GlyfsTer5 | |
| NM_000162.5:c.1363_1364insGGGG MANE Select | NP_000153.1:p.Val455GlyfsTer5 | |
| NM_033507.3:c.1366_1367insGGGG | NP_277042.1:p.Val456GlyfsTer5 | |
| NM_033508.3:c.1360_1361insGGGG | NP_277043.1:p.Val454GlyfsTer5 | |
| NM_001354803.2:c.397_398insGGGG | NP_001341732.1:p.Val133GlyfsTer5 |