Linked Data
dbSNP Id:
rs1802424254
gnomAD v3:
7-146778242-T-TTCCTATG
gnomAD v4:
7-146778242-T-TTCCTATG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.146778243_146778244insCCTATGT , CM000669.2:g.146778243_146778244insCCTATGT | GRCh38 |
| NC_000007.13:g.146475335_146475336insCCTATGT , CM000669.1:g.146475335_146475336insCCTATGT | GRCh37 |
| NC_000007.12:g.146106268_146106269insCCTATGT | NCBI36 |
| NG_007092.2:g.666883_666884insCCTATGT | |
| NG_007092.3:g.667243_667244insCCTATGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361727.8:c.208+3862_208+3863insCCTATGT MANE Select | ENSP00000354778.3:n.208+3862_208+3863insC... | |
| ENST00000636277.1:n.75+3862_75+3863insCCTATGT | ||
| ENST00000636561.1:n.111+3862_111+3863insCCTATGT | ||
| ENST00000636600.1:n.58+3862_58+3863insCCTATGT | ||
| ENST00000637150.1:n.137+3862_137+3863insCCTATGT | ||
| ENST00000637694.1:n.111+3862_111+3863insCCTATGT | ||
| ENST00000638117.1:n.111+3862_111+3863insCCTATGT | ||
| ENST00000361727.7:c.208+3862_208+3863insCCTATGT | ENSP00000354778.3:n.208+3862_208+3863insC... | |
| ENST00000625365.2:c.208+3862_208+3863insCCTATGT | ENSP00000485955.1:n.208+3862_208+3863insC... | |
| NM_014141.5:c.208+3862_208+3863insCCTATGT | NP_054860.1:n.208+3862_208+3863insCCTATGT... | |
| XM_017011950.2:c.208+3862_208+3863insCCTATGT | XP_016867439.1:n.208+3862_208+3863insCCTA... | |
| NM_014141.6:c.208+3862_208+3863insCCTATGT MANE Select | NP_054860.1:n.208+3862_208+3863insCCTATGT... |