Linked Data
dbSNP Id:
rs1191080428
gnomAD v2:
19-11230651-AAAC-A
gnomAD v3:
19-11119975-AAAC-A
gnomAD v4:
19-11119975-AAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11119978_11119980del , CM000681.2:g.11119978_11119980del | GRCh38 |
| NC_000019.9:g.11230654_11230656del , CM000681.1:g.11230654_11230656del | GRCh37 |
| NC_000019.8:g.11091654_11091656del | NCBI36 |
| NG_009060.1:g.35598_35600del , LRG_274:g.35598_35600del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2104-114_2104-112del | ENSP00000252444.6:n.2104-114_2104-112del | |
| ENST00000559340.2:c.1706-114_1706-112del | ENSP00000453696.2:n.1706-114_1706-112del | |
| ENST00000560467.2:c.1726-114_1726-112del | ENSP00000453513.2:n.1726-114_1726-112del | |
| ENST00000558518.6:c.1846-114_1846-112del MANE Select | ENSP00000454071.1:n.1846-114_1846-112del | |
| ENST00000252444.9:c.2100-114_2100-112del | ||
| ENST00000455727.6:c.1342-114_1342-112del | ENSP00000397829.2:n.1342-114_1342-112del | |
| ENST00000535915.5:c.1723-114_1723-112del | ENSP00000440520.1:n.1723-114_1723-112del | |
| ENST00000545707.5:c.1465-114_1465-112del | ENSP00000437639.1:n.1465-114_1465-112del | |
| ENST00000557933.5:c.1846-114_1846-112del | ENSP00000453557.1:n.1846-114_1846-112del | |
| ENST00000558013.5:c.1846-114_1846-112del | ENSP00000453346.1:n.1846-114_1846-112del | |
| ENST00000558518.5:c.1846-114_1846-112del | ENSP00000454071.1:n.1846-114_1846-112del | |
| ENST00000559340.1:c.427-114_427-112del | ||
| NM_000527.4:c.1846-114_1846-112del , LRG_274t1:c.1846-114_1846-112del | NP_000518.1:n.1846-114_1846-112del | |
| NM_001195798.1:c.1846-114_1846-112del | NP_001182727.1:n.1846-114_1846-112del | |
| NM_001195799.1:c.1723-114_1723-112del | NP_001182728.1:n.1723-114_1723-112del | |
| NM_001195800.1:c.1342-114_1342-112del | NP_001182729.1:n.1342-114_1342-112del | |
| NM_001195803.1:c.1465-114_1465-112del | NP_001182732.1:n.1465-114_1465-112del | |
| XM_011528010.1:c.1846-114_1846-112del | XP_011526312.1:n.1846-114_1846-112del | |
| XM_011528011.1:c.1465-114_1465-112del | XP_011526313.1:n.1465-114_1465-112del | |
| XR_244074.2:n.1856-114_1856-112del | ||
| XM_011528010.2:c.1846-114_1846-112del | XP_011526312.1:n.1846-114_1846-112del | |
| XR_001753685.2:n.1963-114_1963-112del | ||
| XR_001753686.2:n.1823-114_1823-112del | ||
| NM_000527.5:c.1846-114_1846-112del MANE Select | NP_000518.1:n.1846-114_1846-112del | |
| NM_001195798.2:c.1846-114_1846-112del | NP_001182727.1:n.1846-114_1846-112del | |
| NM_001195799.2:c.1723-114_1723-112del | NP_001182728.1:n.1723-114_1723-112del | |
| NM_001195800.2:c.1342-114_1342-112del | NP_001182729.1:n.1342-114_1342-112del | |
| NM_001195803.2:c.1465-114_1465-112del | NP_001182732.1:n.1465-114_1465-112del |