Linked Data
ClinVar Variation Id:
956890
dbSNP Id:
rs757928590
ExAC:
4:995659 TC / T
gnomAD v2:
4-995659-TC-T
gnomAD v4:
4-1001871-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1001873del , CM000666.2:g.1001873del | GRCh38 |
| NC_000004.11:g.995661del , CM000666.1:g.995661del | GRCh37 |
| NC_000004.10:g.985661del | NCBI36 |
| NG_008103.1:g.19877del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.784del | ENSP00000247933.4:p.His262ThrfsTer? | |
| ENST00000514224.2:c.784del MANE Select | ENSP00000425081.2:p.His262ThrfsTer? | |
| ENST00000652070.1:n.840del | ||
| ENST00000247933.8:c.784del | ENSP00000247933.4:p.His262ThrfsTer? | |
| ENST00000502910.5:c.643del | ENSP00000422952.1:p.His215ThrfsTer? | |
| ENST00000514192.5:c.601del | ENSP00000423685.1:p.His201ThrfsTer? | |
| ENST00000514224.1:c.388del | ENSP00000425081.1:p.His130ThrfsTer? | |
| ENST00000514698.5:n.684del | ||
| NM_000203.4:c.784del | NP_000194.2:p.His262ThrfsTer? | |
| NR_110313.1:n.872del | ||
| XM_006713882.2:c.388del | XP_006713945.1:p.His130ThrfsTer? | |
| XM_011513459.1:c.643del | XP_011511761.1:p.His215ThrfsTer? | |
| XM_011513460.1:c.643del | XP_011511762.1:p.His215ThrfsTer? | |
| XM_011513461.1:c.577del | XP_011511763.1:p.His193ThrfsTer? | |
| XM_011513462.1:c.496del | XP_011511764.1:p.His166ThrfsTer? | |
| XM_011513463.1:c.496del | XP_011511765.1:p.His166ThrfsTer? | |
| XR_924947.1:n.853del | ||
| NM_000203.5:c.784del MANE Select | NP_000194.2:p.His262ThrfsTer? | |
| NM_001363576.1:c.388del | NP_001350505.1:p.His130ThrfsTer? | |
| XM_011513461.2:c.577del | XP_011511763.1:p.His193ThrfsTer? | |
| XM_017008163.1:c.-177del | XP_016863652.1:n.-177del |