Linked Data
dbSNP Id:
rs1555893571
gnomAD v3:
19-55308364-C-CTGTACCTGGCT
gnomAD v4:
19-55308364-C-CTGTACCTGGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55308364_55308365insTGTACCTGGCT , CM000681.2:g.55308364_55308365insTGTACCTGGCT | GRCh38 |
| NC_000019.9:g.55819732_55819733insTGTACCTGGCT , CM000681.1:g.55819732_55819733insTGTACCTGGCT | GRCh37 |
| NC_000019.8:g.60511544_60511545insTGTACCTGGCT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309383.6:c.2090-275_2090-274insTGTACCTGGCT MANE Select | ENSP00000310649.1:n.2090-275_2090-274insTGTACCTGGCT | |
| ENST00000309383.5:c.2090-275_2090-274insTGTACCTGGCT | ENSP00000310649.1:n.2090-275_2090-274insTGTACCTGGCT | |
| ENST00000326848.7:c.1175-275_1175-274insTGTACCTGGCT | ENSP00000320853.7:n.1175-275_1175-274insTGTACCTGGCT | |
| ENST00000590333.5:c.2138-275_2138-274insTGTACCTGGCT | ENSP00000468190.1:n.2138-275_2138-274insTGTACCTGGCT | |
| NM_032430.1:c.2090-275_2090-274insTGTACCTGGCT | NP_115806.1:n.2090-275_2090-274insTGTACCTGGCT | |
| XM_005259327.2:c.1820-275_1820-274insTGTACCTGGCT | XP_005259384.1:n.1820-275_1820-274insTGTACCTGGCT | |
| XM_011527395.1:c.1847-275_1847-274insTGTACCTGGCT | XP_011525697.1:n.1847-275_1847-274insTGTACCTGGCT | |
| XR_430213.2:n.2073-275_2073-274insTGTACCTGGCT | ||
| XM_005259327.3:c.1820-275_1820-274insTGTACCTGGCT | XP_005259384.1:n.1820-275_1820-274insTGTACCTGGCT | |
| XM_011527395.2:c.1562-275_1562-274insTGTACCTGGCT | XP_011525697.2:n.1562-275_1562-274insTGTACCTGGCT | |
| XM_024451739.1:c.1865-275_1865-274insTGTACCTGGCT | XP_024307507.1:n.1865-275_1865-274insTGTACCTGGCT | |
| XR_430213.4:n.2371-275_2371-274insTGTACCTGGCT | ||
| NM_032430.2:c.2090-275_2090-274insTGTACCTGGCT MANE Select | NP_115806.1:n.2090-275_2090-274insTGTACCTGGCT |