Linked Data
ClinVar Variation Id:
374091
dbSNP Id:
rs1057518892
gnomAD v2:
4-113508615-CAG-C
gnomAD v3:
4-112587459-CAG-C
gnomAD v4:
4-112587459-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.112587462_112587463del , CM000666.2:g.112587462_112587463del | GRCh38 |
| NC_000004.11:g.113508618_113508619del , CM000666.1:g.113508618_113508619del | GRCh37 |
| NC_000004.10:g.113728067_113728068del | NCBI36 |
| NG_053121.1:g.54535_54536del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505019.6:c.3596_3597del MANE Select | ENSP00000424737.1:p.Ser1199CysfsTer18 | |
| ENST00000445203.6:c.3596_3597del | ENSP00000390505.3:p.Ser1199CysfsTer18 | |
| ENST00000445413.6:c.290_291del | ENSP00000404365.2:p.Ser97CysfsTer18 | |
| ENST00000473015.5:c.*463_*464del | ENSP00000426938.1:n.*463_*464del | |
| ENST00000505019.5:c.3596_3597del | ENSP00000424737.1:p.Ser1199CysfsTer18 | |
| NM_018392.4:c.3596_3597del | NP_060862.3:p.Ser1199CysfsTer18 | |
| XM_005263115.2:c.3596_3597del | XP_005263172.1:p.Ser1199CysfsTer18 | |
| XM_011532091.1:c.3545_3546del | XP_011530393.1:p.Ser1182CysfsTer18 | |
| XM_011532092.1:c.3536_3537del | XP_011530394.1:p.Ser1179CysfsTer18 | |
| XM_011532093.1:c.3422_3423del | XP_011530395.1:p.Ser1141CysfsTer18 | |
| XM_011532094.1:c.3338_3339del | XP_011530396.1:p.Ser1113CysfsTer18 | |
| XM_011532095.1:c.3128-1736_3128-1735del | XP_011530397.1:n.3128-1736_3128-1735del | |
| XM_011532096.1:c.3596_3597del | XP_011530398.1:p.Ser1199CysfsTer18 | |
| XM_011532097.1:c.743_744del | XP_011530399.1:p.Ser248CysfsTer18 | |
| XM_011532098.1:c.467_468del | XP_011530400.1:p.Ser156CysfsTer18 | |
| XM_011532099.1:c.467_468del | XP_011530401.1:p.Ser156CysfsTer18 | |
| XR_938763.1:n.3807_3808del | ||
| XR_938764.1:n.3807_3808del | ||
| NM_001350397.1:c.3422_3423del | NP_001337326.1:p.Ser1141CysfsTer18 | |
| XM_005263115.4:c.3596_3597del | XP_005263172.1:p.Ser1199CysfsTer18 | |
| XM_011532091.2:c.3545_3546del | XP_011530393.1:p.Ser1182CysfsTer18 | |
| XM_011532092.2:c.3536_3537del | XP_011530394.1:p.Ser1179CysfsTer18 | |
| XM_011532094.2:c.3338_3339del | XP_011530396.1:p.Ser1113CysfsTer18 | |
| XM_011532096.2:c.3596_3597del | XP_011530398.1:p.Ser1199CysfsTer18 | |
| XM_011532097.2:c.743_744del | XP_011530399.1:p.Ser248CysfsTer18 | |
| XM_011532098.2:c.467_468del | XP_011530400.1:p.Ser156CysfsTer18 | |
| XM_011532099.2:c.467_468del | XP_011530401.1:p.Ser156CysfsTer18 | |
| XM_017008369.2:c.3536_3537del | XP_016863858.1:p.Ser1179CysfsTer18 | |
| XM_017008370.1:c.3371_3372del | XP_016863859.1:p.Ser1124CysfsTer18 | |
| XM_017008371.1:c.3311_3312del | XP_016863860.1:p.Ser1104CysfsTer18 | |
| XM_017008372.1:c.28-878_28-877del | XP_016863861.1:n.28-878_28-877del | |
| XM_017008373.1:c.28-878_28-877del | XP_016863862.1:n.28-878_28-877del | |
| XM_024454129.1:c.28-878_28-877del | XP_024309897.1:n.28-878_28-877del | |
| XM_024454130.1:c.28-878_28-877del | XP_024309898.1:n.28-878_28-877del | |
| XR_001741282.1:n.3633_3634del | ||
| NM_001350397.2:c.3422_3423del | NP_001337326.1:p.Ser1141CysfsTer18 | |
| NM_018392.5:c.3596_3597del MANE Select | NP_060862.3:p.Ser1199CysfsTer18 |