Linked Data
dbSNP Id:
rs2115729276
gnomAD v3:
7-66087250-G-GTGTGTGTGTA
gnomAD v4:
7-66087250-G-GTGTGTGTGTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66087259_66087260insATGTGTGTGT , CM000669.2:g.66087259_66087260insATGTGTGTGT | GRCh38 |
| NC_000007.13:g.65552246_65552247insATGTGTGTGT , CM000669.1:g.65552246_65552247insATGTGTGTGT | GRCh37 |
| NC_000007.12:g.65189681_65189682insATGTGTGTGT | NCBI36 |
| NG_009288.1:g.16471_16472insATGTGTGTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.603-75_603-74insATGTGTGTGT MANE Select | ENSP00000307188.9:n.603-75_603-74insATGTGTGTGT | |
| ENST00000362000.10:c.408-75_408-74insATGTGTGTGT | ENSP00000354710.6:n.408-75_408-74insATGTGTGTGT | |
| ENST00000380839.9:c.525-75_525-74insATGTGTGTGT | ENSP00000370219.4:n.525-75_525-74insATGTGTGTGT | |
| ENST00000395331.4:c.603-75_603-74insATGTGTGTGT | ENSP00000378740.3:n.603-75_603-74insATGTGTGTGT | |
| ENST00000395332.8:c.603-75_603-74insATGTGTGTGT | ENSP00000378741.3:n.603-75_603-74insATGTGTGTGT | |
| ENST00000671817.1:c.525-75_525-74insATGTGTGTGT | ENSP00000500462.1:n.525-75_525-74insATGTGTGTGT | |
| ENST00000672498.1:c.447-470_447-469insATGTGTGTGT | ENSP00000500227.1:n.447-470_447-469insATGTGTGTGT | |
| ENST00000672586.1:n.945_946insATGTGTGTGT | ||
| ENST00000672676.1:n.1210_1211insATGTGTGTGT | ||
| ENST00000673149.1:n.415-75_415-74insATGTGTGTGT | ||
| ENST00000673350.1:n.1288_1289insATGTGTGTGT | ||
| ENST00000673518.1:c.525-75_525-74insATGTGTGTGT | ENSP00000499889.1:n.525-75_525-74insATGTGTGTGT | |
| ENST00000673594.1:n.452-75_452-74insATGTGTGTGT | ||
| ENST00000304874.13:c.603-75_603-74insATGTGTGTGT | ENSP00000307188.9:n.603-75_603-74insATGTGTGTGT | |
| ENST00000362000.9:c.408-75_408-74insATGTGTGTGT | ENSP00000354710.5:n.408-75_408-74insATGTGTGTGT | |
| ENST00000380839.8:c.525-75_525-74insATGTGTGTGT | ENSP00000370219.4:n.525-75_525-74insATGTGTGTGT | |
| ENST00000395331.3:c.603-75_603-74insATGTGTGTGT | ENSP00000378740.3:n.603-75_603-74insATGTGTGTGT | |
| ENST00000395332.7:c.603-75_603-74insATGTGTGTGT | ENSP00000378741.3:n.603-75_603-74insATGTGTGTGT | |
| NM_000048.3:c.603-75_603-74insATGTGTGTGT | NP_000039.2:n.603-75_603-74insATGTGTGTGT | |
| NM_001024943.1:c.603-75_603-74insATGTGTGTGT | NP_001020114.1:n.603-75_603-74insATGTGTGTGT | |
| NM_001024944.1:c.603-75_603-74insATGTGTGTGT | NP_001020115.1:n.603-75_603-74insATGTGTGTGT | |
| NM_001024946.1:c.525-75_525-74insATGTGTGTGT | NP_001020117.1:n.525-75_525-74insATGTGTGTGT | |
| NM_000048.4:c.603-75_603-74insATGTGTGTGT MANE Select | NP_000039.2:n.603-75_603-74insATGTGTGTGT | |
| NM_001024943.2:c.603-75_603-74insATGTGTGTGT | NP_001020114.1:n.603-75_603-74insATGTGTGTGT | |
| NM_001024944.2:c.603-75_603-74insATGTGTGTGT | NP_001020115.1:n.603-75_603-74insATGTGTGTGT | |
| NM_001024946.2:c.525-75_525-74insATGTGTGTGT | NP_001020117.1:n.525-75_525-74insATGTGTGTGT |