ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1004083del , CM000666.2:g.1004083del | GRCh38 |
| NC_000004.11:g.997871del , CM000666.1:g.997871del | GRCh37 |
| NC_000004.10:g.987871del | NCBI36 |
| NG_008103.1:g.22087del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1799del | ENSP00000247933.4:p.Ser600Ter | |
| ENST00000514224.2:c.1799del MANE Select | ENSP00000425081.2:p.Ser600Ter | |
| ENST00000652070.1:n.1855del | ||
| ENST00000247933.8:c.1799del | ENSP00000247933.4:p.Ser600Ter | |
| ENST00000514224.1:c.1403del | ENSP00000425081.1:p.Ser468Ter | |
| ENST00000514698.5:n.1910del | ||
| NM_000203.4:c.1799del | NP_000194.2:p.Ser600Ter | |
| NR_110313.1:n.1891del | ||
| XM_006713882.2:c.1403del | XP_006713945.1:p.Ser468Ter | |
| XM_011513459.1:c.1865del | XP_011511761.1:p.Ser622Ter | |
| XM_011513460.1:c.1658del | XP_011511762.1:p.Ser553Ter | |
| XM_011513461.1:c.1592del | XP_011511763.1:p.Ser531Ter | |
| XM_011513462.1:c.1511del | XP_011511764.1:p.Ser504Ter | |
| XM_011513463.1:c.1511del | XP_011511765.1:p.Ser504Ter | |
| XR_924947.1:n.2059del | ||
| NM_000203.5:c.1799del MANE Select | NP_000194.2:p.Ser600Ter | |
| NM_001363576.1:c.1403del | NP_001350505.1:p.Ser468Ter | |
| XM_011513461.2:c.1592del | XP_011511763.1:p.Ser531Ter | |
| XM_017008163.1:c.839del | XP_016863652.1:p.Ser280Ter |