Linked Data
dbSNP Id:
rs1800166712
gnomAD v3:
8-1296129-AGGGTGGAGTTG-A
gnomAD v4:
8-1296129-AGGGTGGAGTTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1296137_1296147del , CM000670.2:g.1296137_1296147del | GRCh38 |
| NC_000008.10:g.1244397_1244407del , CM000670.1:g.1244397_1244407del | GRCh37 |
| NC_000008.9:g.1231804_1231814del | NCBI36 |
| NG_009409.2:g.563419_563429del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421627.7:c.103+37254_103+37264del | ENSP00000400258.3:n.103+37254_103+37264del | |
| ENST00000637795.2:c.106+37254_106+37264del MANE Select | ENSP00000489774.1:n.106+37254_106+37264del | |
| NR_111948.1:n.2943_2953del | ||
| XM_011534761.1:c.-135+37254_-135+37264del | XP_011533063.1:n.-135+37254_-135+37264del | |
| XM_011534762.1:c.-135+37254_-135+37264del | XP_011533064.1:n.-135+37254_-135+37264del | |
| NM_001346810.1:c.106+37254_106+37264del | NP_001333739.1:n.106+37254_106+37264del | |
| NM_001346810.2:c.106+37254_106+37264del MANE Select | NP_001333739.1:n.106+37254_106+37264del |