Linked Data
dbSNP Id:
rs573146399
gnomAD v2:
9-100438101-CAA-C
gnomAD v3:
9-97675819-CAA-C
gnomAD v4:
9-97675819-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675820_97675821del , CM000671.2:g.97675820_97675821del | GRCh38 |
| NC_000009.11:g.100438102_100438103del , CM000671.1:g.100438102_100438103del | GRCh37 |
| NC_000009.10:g.99477923_99477924del | NCBI36 |
| NG_011642.1:g.26589_26590del , LRG_471:g.26589_26590del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.674-234_674-233del MANE Select | ENSP00000364270.5:n.674-234_674-233del | |
| ENST00000375128.4:c.674-234_674-233del | ENSP00000364270.4:n.674-234_674-233del | |
| ENST00000462523.5:c.*110-234_*110-233del | ENSP00000433006.1:n.*110-234_*110-233del | |
| ENST00000485042.1:n.135_136del | ||
| NM_000380.3:c.674-234_674-233del , LRG_471t1:c.674-234_674-233del | NP_000371.1:n.674-234_674-233del | |
| NR_027302.1:n.1022-234_1022-233del | ||
| XM_006717278.1:c.674-234_674-233del | XP_006717341.1:n.674-234_674-233del | |
| XM_011518988.1:c.674-234_674-233del | XP_011517290.1:n.674-234_674-233del | |
| XR_929839.1:n.1154_1155del | ||
| NM_001354975.1:c.548-234_548-233del | NP_001341904.1:n.548-234_548-233del | |
| NR_149091.1:n.519-234_519-233del | ||
| NR_149092.1:n.685-234_685-233del | ||
| NR_149093.1:n.1160_1161del | ||
| NR_149094.1:n.1054_1055del | ||
| NM_000380.4:c.674-234_674-233del MANE Select | NP_000371.1:n.674-234_674-233del | |
| NM_001354975.2:c.548-234_548-233del | NP_001341904.1:n.548-234_548-233del | |
| NR_027302.2:n.953-234_953-233del | ||
| NR_149091.2:n.450-234_450-233del | ||
| NR_149092.2:n.616-234_616-233del | ||
| NR_149093.2:n.1091_1092del | ||
| NR_149094.2:n.985_986del |