Linked Data
ClinVar Variation Id:
677330
ClinVar RCV Id:
RCV000836884
dbSNP Id:
rs150584850
gnomAD v2:
19-13470732-CA-C
gnomAD v3:
19-13359918-CA-C
gnomAD v4:
19-13359918-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13359919del , CM000681.2:g.13359919del | GRCh38 |
| NC_000019.9:g.13470733del , CM000681.1:g.13470733del | GRCh37 |
| NC_000019.8:g.13331733del | NCBI36 |
| NG_011569.1:g.151542del , LRG_7:g.151542del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.785-120del MANE Select | ENSP00000353362.5:n.785-120del | |
| ENST00000573710.7:c.785-120del | ENSP00000460092.3:n.785-120del | |
| ENST00000593160.2:n.500-120del | ||
| ENST00000635727.1:c.785-120del | ENSP00000490001.1:n.785-120del | |
| ENST00000635895.1:c.785-120del | ENSP00000490323.1:n.785-120del | |
| ENST00000636012.1:c.785-120del | ENSP00000490223.1:n.785-120del | |
| ENST00000636389.1:c.785-120del | ENSP00000489992.1:n.785-120del | |
| ENST00000636549.1:c.785-120del | ENSP00000490578.1:n.785-120del | |
| ENST00000636974.1:n.144-120del | ||
| ENST00000637276.1:c.785-120del | ENSP00000489777.1:n.785-120del | |
| ENST00000637432.1:c.785-120del | ENSP00000490617.1:n.785-120del | |
| ENST00000637736.1:c.644-120del | ENSP00000489861.1:n.644-120del | |
| ENST00000637769.1:c.785-120del | ENSP00000489778.1:n.785-120del | |
| ENST00000637927.1:c.785-120del | ENSP00000489715.1:n.785-120del | |
| ENST00000637966.1:n.638-120del | ||
| ENST00000638009.2:c.785-120del | ENSP00000489913.1:n.785-120del | |
| ENST00000638029.1:c.785-120del | ENSP00000489829.1:n.785-120del | |
| ENST00000664864.1:c.980-120del | ENSP00000499449.1:n.980-120del | |
| ENST00000360228.9:c.785-120del | ENSP00000353362.5:n.785-120del | |
| ENST00000573710.6:c.785-120del | ENSP00000460092.2:n.785-120del | |
| ENST00000593160.1:n.5-120del | ||
| ENST00000614285.4:c.785-120del | ENSP00000479983.1:n.785-120del | |
| NM_000068.3:c.785-120del | NP_000059.3:n.785-120del | |
| NM_001127221.1:c.785-120del , LRG_7t1:c.785-120del | NP_001120693.1:n.785-120del | |
| NM_001127222.1:c.785-120del | NP_001120694.1:n.785-120del | |
| NM_001174080.1:c.785-120del | NP_001167551.1:n.785-120del | |
| NM_023035.2:c.785-120del | NP_075461.2:n.785-120del | |
| NM_000068.4:c.785-120del | NP_000059.3:n.785-120del | |
| NM_001127222.2:c.785-120del MANE Select | NP_001120694.1:n.785-120del | |
| NM_001174080.2:c.785-120del | NP_001167551.1:n.785-120del | |
| NM_023035.3:c.785-120del | NP_075461.2:n.785-120del | |
| NM_001127221.2:c.785-120del | NP_001120693.1:n.785-120del |