Linked Data
dbSNP Id:
rs1780302993
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485311_143485312insGAATTA , CM000668.2:g.143485311_143485312insGAATTA | GRCh38 |
| NC_000006.11:g.143806448_143806449insGAATTA , CM000668.1:g.143806448_143806449insGAATTA | GRCh37 |
| NC_000006.10:g.143848141_143848142insGAATTA | NCBI36 |
| NG_008459.1:g.39531_39532insGAATTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.1038+63_1038+64insGAATTA MANE Select | ENSP00000356563.4:n.1038+63_1038+64insGAATTA | |
| ENST00000367591.4:c.1038+63_1038+64insGAATTA | ENSP00000356563.4:n.1038+63_1038+64insGAATTA | |
| ENST00000585848.1:n.177+63_177+64insGAATTA | ||
| NM_003630.2:c.1038+63_1038+64insGAATTA | NP_003621.1:n.1038+63_1038+64insGAATTA | |
| NM_003630.3:c.1038+63_1038+64insGAATTA MANE Select | NP_003621.1:n.1038+63_1038+64insGAATTA |