Linked Data
dbSNP Id:
rs376007812
MyVariant Identifiers:
chr19:g.55819680_55819681insTTCATGGCCT (hg19)
chr19:g.55308312_55308313insTTCATGGCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55308312_55308313insTTCATGGCCT , CM000681.2:g.55308312_55308313insTTCATGGCCT | GRCh38 |
| NC_000019.9:g.55819680_55819681insTTCATGGCCT , CM000681.1:g.55819680_55819681insTTCATGGCCT | GRCh37 |
| NC_000019.8:g.60511492_60511493insTTCATGGCCT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309383.6:c.2090-327_2090-326insTTCATGGCCT MANE Select | ENSP00000310649.1:n.2090-327_2090-326insTTCATGGCCT | |
| ENST00000309383.5:c.2090-327_2090-326insTTCATGGCCT | ENSP00000310649.1:n.2090-327_2090-326insTTCATGGCCT | |
| ENST00000326848.7:c.1175-327_1175-326insTTCATGGCCT | ENSP00000320853.7:n.1175-327_1175-326insTTCATGGCCT | |
| ENST00000590333.5:c.2138-327_2138-326insTTCATGGCCT | ENSP00000468190.1:n.2138-327_2138-326insTTCATGGCCT | |
| NM_032430.1:c.2090-327_2090-326insTTCATGGCCT | NP_115806.1:n.2090-327_2090-326insTTCATGGCCT | |
| XM_005259327.2:c.1820-327_1820-326insTTCATGGCCT | XP_005259384.1:n.1820-327_1820-326insTTCATGGCCT | |
| XM_011527395.1:c.1847-327_1847-326insTTCATGGCCT | XP_011525697.1:n.1847-327_1847-326insTTCATGGCCT | |
| XR_430213.2:n.2073-327_2073-326insTTCATGGCCT | ||
| XM_005259327.3:c.1820-327_1820-326insTTCATGGCCT | XP_005259384.1:n.1820-327_1820-326insTTCATGGCCT | |
| XM_011527395.2:c.1562-327_1562-326insTTCATGGCCT | XP_011525697.2:n.1562-327_1562-326insTTCATGGCCT | |
| XM_024451739.1:c.1865-327_1865-326insTTCATGGCCT | XP_024307507.1:n.1865-327_1865-326insTTCATGGCCT | |
| XR_430213.4:n.2371-327_2371-326insTTCATGGCCT | ||
| NM_032430.2:c.2090-327_2090-326insTTCATGGCCT MANE Select | NP_115806.1:n.2090-327_2090-326insTTCATGGCCT |