Linked Data
dbSNP Id:
rs1286308590
gnomAD v3:
19-11119916-GTGAGCCGAGA-G
gnomAD v4:
19-11119916-GTGAGCCGAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11119918_11119927del , CM000681.2:g.11119918_11119927del | GRCh38 |
| NC_000019.9:g.11230594_11230603del , CM000681.1:g.11230594_11230603del | GRCh37 |
| NC_000019.8:g.11091594_11091603del | NCBI36 |
| NG_009060.1:g.35538_35547del , LRG_274:g.35538_35547del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2104-174_2104-165del | ENSP00000252444.6:n.2104-174_2104-165del | |
| ENST00000559340.2:c.1706-174_1706-165del | ENSP00000453696.2:n.1706-174_1706-165del | |
| ENST00000560467.2:c.1726-174_1726-165del | ENSP00000453513.2:n.1726-174_1726-165del | |
| ENST00000558518.6:c.1846-174_1846-165del MANE Select | ENSP00000454071.1:n.1846-174_1846-165del | |
| ENST00000252444.9:c.2100-174_2100-165del | ||
| ENST00000455727.6:c.1342-174_1342-165del | ENSP00000397829.2:n.1342-174_1342-165del | |
| ENST00000535915.5:c.1723-174_1723-165del | ENSP00000440520.1:n.1723-174_1723-165del | |
| ENST00000545707.5:c.1465-174_1465-165del | ENSP00000437639.1:n.1465-174_1465-165del | |
| ENST00000557933.5:c.1846-174_1846-165del | ENSP00000453557.1:n.1846-174_1846-165del | |
| ENST00000558013.5:c.1846-174_1846-165del | ENSP00000453346.1:n.1846-174_1846-165del | |
| ENST00000558518.5:c.1846-174_1846-165del | ENSP00000454071.1:n.1846-174_1846-165del | |
| ENST00000559340.1:c.427-174_427-165del | ||
| NM_000527.4:c.1846-174_1846-165del , LRG_274t1:c.1846-174_1846-165del | NP_000518.1:n.1846-174_1846-165del | |
| NM_001195798.1:c.1846-174_1846-165del | NP_001182727.1:n.1846-174_1846-165del | |
| NM_001195799.1:c.1723-174_1723-165del | NP_001182728.1:n.1723-174_1723-165del | |
| NM_001195800.1:c.1342-174_1342-165del | NP_001182729.1:n.1342-174_1342-165del | |
| NM_001195803.1:c.1465-174_1465-165del | NP_001182732.1:n.1465-174_1465-165del | |
| XM_011528010.1:c.1846-174_1846-165del | XP_011526312.1:n.1846-174_1846-165del | |
| XM_011528011.1:c.1465-174_1465-165del | XP_011526313.1:n.1465-174_1465-165del | |
| XR_244074.2:n.1856-174_1856-165del | ||
| XM_011528010.2:c.1846-174_1846-165del | XP_011526312.1:n.1846-174_1846-165del | |
| XR_001753685.2:n.1963-174_1963-165del | ||
| XR_001753686.2:n.1823-174_1823-165del | ||
| NM_000527.5:c.1846-174_1846-165del MANE Select | NP_000518.1:n.1846-174_1846-165del | |
| NM_001195798.2:c.1846-174_1846-165del | NP_001182727.1:n.1846-174_1846-165del | |
| NM_001195799.2:c.1723-174_1723-165del | NP_001182728.1:n.1723-174_1723-165del | |
| NM_001195800.2:c.1342-174_1342-165del | NP_001182729.1:n.1342-174_1342-165del | |
| NM_001195803.2:c.1465-174_1465-165del | NP_001182732.1:n.1465-174_1465-165del |