Linked Data
ClinVar Variation Id:
1968207
ClinVar RCV Id:
RCV002755120
dbSNP Id:
rs1250109218
gnomAD v4:
19-13371781-TGAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13371789_13371792del , CM000681.2:g.13371789_13371792del | GRCh38 |
| NC_000019.9:g.13482603_13482606del , CM000681.1:g.13482603_13482606del | GRCh37 |
| NC_000019.8:g.13343603_13343606del | NCBI36 |
| NG_011569.1:g.139676_139679del , LRG_7:g.139676_139679del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.540-6_540-3del MANE Select | ENSP00000353362.5:n.540-6_540-3del | |
| ENST00000573710.7:c.540-6_540-3del | ENSP00000460092.3:n.540-6_540-3del | |
| ENST00000574974.3:c.*172-6_*172-3del | ENSP00000459963.2:n.*172-6_*172-3del | |
| ENST00000593160.2:n.255-6_255-3del | ||
| ENST00000635727.1:c.540-6_540-3del | ENSP00000490001.1:n.540-6_540-3del | |
| ENST00000635895.1:c.540-6_540-3del | ENSP00000490323.1:n.540-6_540-3del | |
| ENST00000636012.1:c.540-6_540-3del | ENSP00000490223.1:n.540-6_540-3del | |
| ENST00000636389.1:c.540-6_540-3del | ENSP00000489992.1:n.540-6_540-3del | |
| ENST00000636549.1:c.540-6_540-3del | ENSP00000490578.1:n.540-6_540-3del | |
| ENST00000636966.1:n.428-6_428-3del | ||
| ENST00000637276.1:c.540-6_540-3del | ENSP00000489777.1:n.540-6_540-3del | |
| ENST00000637432.1:c.540-6_540-3del | ENSP00000490617.1:n.540-6_540-3del | |
| ENST00000637736.1:c.399-6_399-3del | ENSP00000489861.1:n.399-6_399-3del | |
| ENST00000637769.1:c.540-6_540-3del | ENSP00000489778.1:n.540-6_540-3del | |
| ENST00000637927.1:c.540-6_540-3del | ENSP00000489715.1:n.540-6_540-3del | |
| ENST00000637966.1:n.393-6_393-3del | ||
| ENST00000637981.1:n.358-6_358-3del | ||
| ENST00000638009.2:c.540-6_540-3del | ENSP00000489913.1:n.540-6_540-3del | |
| ENST00000638029.1:c.540-6_540-3del | ENSP00000489829.1:n.540-6_540-3del | |
| ENST00000664864.1:c.735-6_735-3del | ENSP00000499449.1:n.735-6_735-3del | |
| ENST00000360228.9:c.540-6_540-3del | ENSP00000353362.5:n.540-6_540-3del | |
| ENST00000573710.6:c.540-6_540-3del | ENSP00000460092.2:n.540-6_540-3del | |
| ENST00000574974.1:c.291-6_291-3del | ENSP00000459963.1:n.291-6_291-3del | |
| ENST00000614285.4:c.540-6_540-3del | ENSP00000479983.1:n.540-6_540-3del | |
| NM_000068.3:c.540-6_540-3del | NP_000059.3:n.540-6_540-3del | |
| NM_001127221.1:c.540-6_540-3del , LRG_7t1:c.540-6_540-3del | NP_001120693.1:n.540-6_540-3del | |
| NM_001127222.1:c.540-6_540-3del | NP_001120694.1:n.540-6_540-3del | |
| NM_001174080.1:c.540-6_540-3del | NP_001167551.1:n.540-6_540-3del | |
| NM_023035.2:c.540-6_540-3del | NP_075461.2:n.540-6_540-3del | |
| NM_000068.4:c.540-6_540-3del | NP_000059.3:n.540-6_540-3del | |
| NM_001127222.2:c.540-6_540-3del MANE Select | NP_001120694.1:n.540-6_540-3del | |
| NM_001174080.2:c.540-6_540-3del | NP_001167551.1:n.540-6_540-3del | |
| NM_023035.3:c.540-6_540-3del | NP_075461.2:n.540-6_540-3del | |
| NM_001127221.2:c.540-6_540-3del | NP_001120693.1:n.540-6_540-3del |