Linked Data
dbSNP Id:
rs1651925006
gnomAD v3:
1-162199636-G-GTGTGTGTC
gnomAD v4:
1-162199636-G-GTGTGTGTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162199641_162199642insGTCTGTGT , CM000663.2:g.162199641_162199642insGTCTGTGT | GRCh38 |
| NC_000001.10:g.162169431_162169432insGTCTGTGT , CM000663.1:g.162169431_162169432insGTCTGTGT | GRCh37 |
| NC_000001.9:g.160436055_160436056insGTCTGTGT | NCBI36 |
| NG_015979.1:g.134851_134852insGTCTGTGT | |
| NG_015979.2:g.134851_134852insGTCTGTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361897.10:c.177+45165_177+45166insGTCTGTGT MANE Select | ENSP00000355133.5:n.177+45165_177+45166insGTCTGTGT | |
| ENST00000361897.9:c.177+45165_177+45166insGTCTGTGT | ENSP00000355133.5:n.177+45165_177+45166insGTCTGTGT | |
| ENST00000430120.3:c.177+45165_177+45166insGTCTGTGT | ENSP00000396713.3:n.177+45165_177+45166insGTCTGTGT | |
| ENST00000530878.5:c.177+45165_177+45166insGTCTGTGT | ENSP00000431586.1:n.177+45165_177+45166insGTCTGTGT | |
| NM_001164757.1:c.177+45165_177+45166insGTCTGTGT | NP_001158229.1:n.177+45165_177+45166insGTCTGTGT | |
| NM_014697.2:c.177+45165_177+45166insGTCTGTGT | NP_055512.1:n.177+45165_177+45166insGTCTGTGT | |
| NM_014697.3:c.177+45165_177+45166insGTCTGTGT MANE Select | NP_055512.1:n.177+45165_177+45166insGTCTGTGT | |
| NM_001164757.2:c.177+45165_177+45166insGTCTGTGT | NP_001158229.1:n.177+45165_177+45166insGTCTGTGT |