Linked Data
dbSNP Id:
rs1451993348
gnomAD v2:
3-29954760-CTA-C
gnomAD v3:
3-29913269-CTA-C
gnomAD v4:
3-29913269-CTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.29913271_29913272del , CM000665.2:g.29913271_29913272del | GRCh38 |
| NC_000003.11:g.29954762_29954763del , CM000665.1:g.29954762_29954763del | GRCh37 |
| NC_000003.10:g.29929766_29929767del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383767.7:c.939+13516_939+13517del MANE Select | ENSP00000373277.2:n.939+13516_939+13517de... | |
| ENST00000636680.2:c.1317+13516_1317+13517del | ENSP00000490271.2:n.1317+13516_1317+13517... | |
| ENST00000637842.1:c.1186+13516_1186+13517del | ENSP00000489718.1:n.1186+13516_1186+13517... | |
| ENST00000273139.13:c.939+13516_939+13517del | ENSP00000273139.9:n.939+13516_939+13517de... | |
| ENST00000383766.6:c.885+15796_885+15797del | ENSP00000373276.2:n.885+15796_885+15797de... | |
| ENST00000383767.6:c.939+13516_939+13517del | ENSP00000373277.2:n.939+13516_939+13517de... | |
| ENST00000434693.6:c.936+13516_936+13517del | ENSP00000395592.1:n.936+13516_936+13517de... | |
| ENST00000452462.5:c.939+13516_939+13517del | ENSP00000397926.1:n.939+13516_939+13517de... | |
| ENST00000456853.1:c.978+13516_978+13517del | ENSP00000400519.1:n.978+13516_978+13517de... | |
| NM_001003792.2:c.885+15796_885+15797del | NP_001003792.1:n.885+15796_885+15797del | |
| NM_001003793.2:c.939+13516_939+13517del | NP_001003793.1:n.939+13516_939+13517del | |
| NM_001177711.1:c.939+13516_939+13517del | NP_001171182.1:n.939+13516_939+13517del | |
| NM_001177712.1:c.978+13516_978+13517del | NP_001171183.1:n.978+13516_978+13517del | |
| NM_014483.3:c.939+13516_939+13517del | NP_055298.2:n.939+13516_939+13517del | |
| XM_005265060.1:c.936+13516_936+13517del | XP_005265117.1:n.936+13516_936+13517del | |
| XM_005265061.1:c.888+15796_888+15797del | XP_005265118.1:n.888+15796_888+15797del | |
| XM_005265062.1:c.888+15796_888+15797del | XP_005265119.1:n.888+15796_888+15797del | |
| XM_005265063.1:c.654+13516_654+13517del | XP_005265120.1:n.654+13516_654+13517del | |
| XM_005265064.3:c.654+13516_654+13517del | XP_005265121.1:n.654+13516_654+13517del | |
| XM_005265065.3:c.612+13516_612+13517del | XP_005265122.1:n.612+13516_612+13517del | |
| XM_011533592.1:c.939+13516_939+13517del | XP_011531894.1:n.939+13516_939+13517del | |
| XM_011533593.1:c.939+13516_939+13517del | XP_011531895.1:n.939+13516_939+13517del | |
| XM_011533594.1:c.940-11026_940-11025del | XP_011531896.1:n.940-11026_940-11025del | |
| NM_001330696.1:c.936+13516_936+13517del | NP_001317625.1:n.936+13516_936+13517del | |
| XM_005265061.2:c.888+15796_888+15797del | XP_005265118.1:n.888+15796_888+15797del | |
| XM_005265063.2:c.654+13516_654+13517del | XP_005265120.1:n.654+13516_654+13517del | |
| XM_005265065.5:c.612+13516_612+13517del | XP_005265122.1:n.612+13516_612+13517del | |
| XM_017006178.1:c.936+13516_936+13517del | XP_016861667.1:n.936+13516_936+13517del | |
| XM_017006179.1:c.936+13516_936+13517del | XP_016861668.1:n.936+13516_936+13517del | |
| XM_017006180.1:c.888+15796_888+15797del | XP_016861669.1:n.888+15796_888+15797del | |
| XM_017006181.1:c.885+15796_885+15797del | XP_016861670.1:n.885+15796_885+15797del | |
| XM_017006182.1:c.786+15796_786+15797del | XP_016861671.1:n.786+15796_786+15797del | |
| XM_024453454.1:c.939+13516_939+13517del | XP_024309222.1:n.939+13516_939+13517del | |
| NM_001003792.3:c.885+15796_885+15797del | NP_001003792.1:n.885+15796_885+15797del | |
| NM_001003793.3:c.939+13516_939+13517del MANE Select | NP_001003793.1:n.939+13516_939+13517del | |
| NM_001177711.2:c.939+13516_939+13517del | NP_001171182.1:n.939+13516_939+13517del | |
| NM_001177712.2:c.978+13516_978+13517del | NP_001171183.1:n.978+13516_978+13517del | |
| NM_014483.4:c.939+13516_939+13517del | NP_055298.2:n.939+13516_939+13517del |