Linked Data
ClinVar Variation Id:
226329
dbSNP Id:
rs121908027
ExAC:
19:11216232 ATGG / A
gnomAD v2:
19-11216232-ATGG-A
gnomAD v3:
19-11105556-ATGG-A
gnomAD v4:
19-11105556-ATGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105560_11105562del , CM000681.2:g.11105560_11105562del | GRCh38 |
| NC_000019.9:g.11216236_11216238del , CM000681.1:g.11216236_11216238del | GRCh37 |
| NC_000019.8:g.11077236_11077238del | NCBI36 |
| NG_009060.1:g.21180_21182del , LRG_274:g.21180_21182del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.912_914del | ENSP00000252444.6:p.Gly305del | |
| ENST00000559340.2:c.654_656del | ENSP00000453696.2:p.Gly219del | |
| ENST00000560467.2:c.654_656del | ENSP00000453513.2:p.Gly219del | |
| ENST00000558518.6:c.654_656del MANE Select | ENSP00000454071.1:p.Gly219del | |
| ENST00000252444.9:c.908_910del | ||
| ENST00000455727.6:c.314-1832_314-1830del | ENSP00000397829.2:n.314-1832_314-1830del | |
| ENST00000535915.5:c.531_533del | ENSP00000440520.1:p.Gly178del | |
| ENST00000545707.5:c.314-1005_314-1003del | ENSP00000437639.1:n.314-1005_314-1003del | |
| ENST00000557933.5:c.654_656del | ENSP00000453557.1:p.Gly219del | |
| ENST00000558013.5:c.654_656del | ENSP00000453346.1:p.Gly219del | |
| ENST00000558518.5:c.654_656del | ENSP00000454071.1:p.Gly219del | |
| ENST00000560467.1:c.254_256del | ||
| NM_000527.4:c.654_656del , LRG_274t1:c.654_656del | NP_000518.1:p.Gly219del | |
| NM_001195798.1:c.654_656del | NP_001182727.1:p.Gly219del | |
| NM_001195799.1:c.531_533del | NP_001182728.1:p.Gly178del | |
| NM_001195800.1:c.314-1832_314-1830del | NP_001182729.1:n.314-1832_314-1830del | |
| NM_001195803.1:c.314-1005_314-1003del | NP_001182732.1:n.314-1005_314-1003del | |
| XM_011528010.1:c.654_656del | XP_011526312.1:p.Gly219del | |
| XM_011528011.1:c.314-1005_314-1003del | XP_011526313.1:n.314-1005_314-1003del | |
| XR_244074.2:n.804_806del | ||
| XM_011528010.2:c.654_656del | XP_011526312.1:p.Gly219del | |
| XR_001753685.2:n.771_773del | ||
| XR_001753686.2:n.771_773del | ||
| NM_000527.5:c.654_656del MANE Select | NP_000518.1:p.Gly219del | |
| NM_001195798.2:c.654_656del | NP_001182727.1:p.Gly219del | |
| NM_001195799.2:c.531_533del | NP_001182728.1:p.Gly178del | |
| NM_001195800.2:c.314-1832_314-1830del | NP_001182729.1:n.314-1832_314-1830del | |
| NM_001195803.2:c.314-1005_314-1003del | NP_001182732.1:n.314-1005_314-1003del |