Linked Data
ClinVar Variation Id:
3075013
ClinVar RCV Id:
RCV004015539
dbSNP Id:
rs1307051071
gnomAD v2:
6-7583278-TAGAAAC-T
gnomAD v3:
6-7583045-TAGAAAC-T
gnomAD v4:
6-7583045-TAGAAAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7583050_7583055del , CM000668.2:g.7583050_7583055del | GRCh38 |
| NC_000006.11:g.7583283_7583288del , CM000668.1:g.7583283_7583288del | GRCh37 |
| NC_000006.10:g.7528282_7528287del | NCBI36 |
| NG_008803.1:g.46414_46419del , LRG_423:g.46414_46419del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.4459_4464del | ENSP00000518230.1:p.Thr1487_Glu1488del | |
| ENST00000379802.8:c.5788_5793del MANE Select | ENSP00000369129.3:p.Thr1930_Glu1931del | |
| ENST00000379802.7:c.5788_5793del | ENSP00000369129.3:p.Thr1930_Glu1931del | |
| ENST00000418664.2:c.3991_3996del | ENSP00000396591.2:p.Thr1331_Glu1332del | |
| NM_001008844.1:c.3991_3996del | NP_001008844.1:p.Thr1331_Glu1332del | |
| NM_004415.2:c.5788_5793del , LRG_423t1:c.5788_5793del | NP_004406.2:p.Thr1930_Glu1931del | |
| XM_011514323.1:c.4459_4464del | XP_011512625.1:p.Thr1487_Glu1488del | |
| NM_001008844.2:c.3991_3996del | NP_001008844.1:p.Thr1331_Glu1332del | |
| NM_001319034.1:c.4459_4464del | NP_001305963.1:p.Thr1487_Glu1488del | |
| NM_004415.3:c.5788_5793del | NP_004406.2:p.Thr1930_Glu1931del | |
| NM_004415.4:c.5788_5793del MANE Select | NP_004406.2:p.Thr1930_Glu1931del | |
| NM_001008844.3:c.3991_3996del | NP_001008844.1:p.Thr1331_Glu1332del | |
| NM_001319034.2:c.4459_4464del | NP_001305963.1:p.Thr1487_Glu1488del |