Linked Data
dbSNP Id:
rs767648127
ExAC:
19:36398527 TGGGGAG / T
gnomAD v2:
19-36398527-TGGGGAG-T
gnomAD v4:
19-35907625-TGGGGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35907630_35907635del , CM000681.2:g.35907630_35907635del | GRCh38 |
| NC_000019.9:g.36398532_36398537del , CM000681.1:g.36398532_36398537del | GRCh37 |
| NC_000019.8:g.41090372_41090377del | NCBI36 |
| NG_009304.1:g.5654_5659del , LRG_607:g.5654_5659del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262629.9:c.95-51_95-46del MANE Select | ENSP00000262629.3:n.95-51_95-46del | |
| ENST00000262629.8:c.95-51_95-46del | ENSP00000262629.3:n.95-51_95-46del | |
| ENST00000424586.7:c.62-51_62-46del | ENSP00000402371.3:n.62-51_62-46del | |
| ENST00000544690.6:c.62-51_62-46del | ENSP00000445332.1:n.62-51_62-46del | |
| ENST00000585626.1:n.162-51_162-46del | ||
| ENST00000585901.6:c.95-51_95-46del | ENSP00000468608.1:n.95-51_95-46del | |
| ENST00000586946.1:c.88-51_88-46del | ENSP00000465656.1:n.88-51_88-46del | |
| ENST00000587837.5:c.88-51_88-46del | ENSP00000465081.1:n.88-51_88-46del | |
| ENST00000588439.1:n.188_193del | ||
| ENST00000589517.1:c.95-51_95-46del | ENSP00000468447.1:n.95-51_95-46del | |
| NM_001173514.1:c.62-51_62-46del | NP_001166985.1:n.62-51_62-46del | |
| NM_001173515.1:c.62-51_62-46del | NP_001166986.1:n.62-51_62-46del | |
| NM_003332.3:c.95-51_95-46del , LRG_607t1:c.95-51_95-46del | NP_003323.1:n.95-51_95-46del | |
| NM_198125.2:c.95-51_95-46del | NP_937758.1:n.95-51_95-46del | |
| NR_033390.1:n.136-51_136-46del | ||
| NM_001173514.2:c.62-51_62-46del | NP_001166985.1:n.62-51_62-46del | |
| NM_001173515.2:c.62-51_62-46del | NP_001166986.1:n.62-51_62-46del | |
| NM_003332.4:c.95-51_95-46del MANE Select | NP_003323.1:n.95-51_95-46del | |
| NM_198125.3:c.95-51_95-46del | NP_937758.1:n.95-51_95-46del | |
| NR_033390.2:n.122-51_122-46del |