Linked Data
dbSNP Id:
rs775347030
ExAC:
19:45296723 TC / T
gnomAD v2:
19-45296723-TC-T
gnomAD v4:
19-44793466-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44793471del , CM000681.2:g.44793471del | GRCh38 |
| NC_000019.9:g.45296728del , CM000681.1:g.45296728del | GRCh37 |
| NC_000019.8:g.49988568del | NCBI36 |
| NG_054718.1:g.20617del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647358.2:c.1138-3del MANE Select | ENSP00000494162.1:n.1138-3del | |
| ENST00000270279.7:c.1138-3del | ENSP00000270279.3:n.1138-3del | |
| ENST00000341505.4:c.1000-3del | ENSP00000340250.4:n.1000-3del | |
| NM_001130852.1:c.1000-3del | NP_001124324.1:n.1000-3del | |
| NM_012116.3:c.1138-3del | NP_036248.3:n.1138-3del | |
| XM_005258696.2:c.1138-3del | XP_005258753.1:n.1138-3del | |
| XM_011526688.1:c.1138-3del | XP_011524990.1:n.1138-3del | |
| XM_011526689.1:c.1000-3del | XP_011524991.1:n.1000-3del | |
| XR_935783.1:n.1085-3del | ||
| NM_012116.4:c.1138-3del MANE Select | NP_036248.3:n.1138-3del | |
| XM_005258696.3:c.1138-3del | XP_005258753.1:n.1138-3del | |
| XM_011526688.2:c.1138-3del | XP_011524990.1:n.1138-3del | |
| XM_011526689.2:c.1000-3del | XP_011524991.1:n.1000-3del | |
| XR_935783.2:n.1090-3del |