Linked Data
dbSNP Id:
rs1828345500
gnomAD v3:
9-97675761-ACTTTCTTAC-A
gnomAD v4:
9-97675761-ACTTTCTTAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675764_97675772del , CM000671.2:g.97675764_97675772del | GRCh38 |
| NC_000009.11:g.100438046_100438054del , CM000671.1:g.100438046_100438054del | GRCh37 |
| NC_000009.10:g.99477867_99477875del | NCBI36 |
| NG_011642.1:g.26640_26648del , LRG_471:g.26640_26648del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.674-183_674-175del MANE Select | ENSP00000364270.5:n.674-183_674-175del | |
| ENST00000375128.4:c.674-183_674-175del | ENSP00000364270.4:n.674-183_674-175del | |
| ENST00000462523.5:c.*110-183_*110-175del | ENSP00000433006.1:n.*110-183_*110-175del | |
| ENST00000485042.1:n.185+1_185+9del | ||
| NM_000380.3:c.674-183_674-175del , LRG_471t1:c.674-183_674-175del | NP_000371.1:n.674-183_674-175del | |
| NR_027302.1:n.1022-183_1022-175del | ||
| XM_006717278.1:c.674-183_674-175del | XP_006717341.1:n.674-183_674-175del | |
| XM_011518988.1:c.674-183_674-175del | XP_011517290.1:n.674-183_674-175del | |
| XR_929839.1:n.1204+1_1204+9del | ||
| NM_001354975.1:c.548-183_548-175del | NP_001341904.1:n.548-183_548-175del | |
| NR_149091.1:n.519-183_519-175del | ||
| NR_149092.1:n.685-183_685-175del | ||
| NR_149093.1:n.1210+1_1210+9del | ||
| NR_149094.1:n.1104+1_1104+9del | ||
| NM_000380.4:c.674-183_674-175del MANE Select | NP_000371.1:n.674-183_674-175del | |
| NM_001354975.2:c.548-183_548-175del | NP_001341904.1:n.548-183_548-175del | |
| NR_027302.2:n.953-183_953-175del | ||
| NR_149091.2:n.450-183_450-175del | ||
| NR_149092.2:n.616-183_616-175del | ||
| NR_149093.2:n.1141+1_1141+9del | ||
| NR_149094.2:n.1035+1_1035+9del |