Linked Data
dbSNP Id:
rs1465250808
gnomAD v2:
2-31792524-GTGTA-G
gnomAD v3:
2-31567454-GTGTA-G
gnomAD v4:
2-31567454-GTGTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31567456_31567459del , CM000664.2:g.31567456_31567459del | GRCh38 |
| NC_000002.11:g.31792526_31792529del , CM000664.1:g.31792526_31792529del | GRCh37 |
| NC_000002.10:g.31646030_31646033del | NCBI36 |
| NG_008365.1:g.18514_18517del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.281+13162_281+13165del MANE Select | ENSP00000477587.1:n.281+13162_281+13165del | |
| ENST00000622030.1:c.281+13162_281+13165del | ENSP00000477587.1:n.281+13162_281+13165del | |
| NM_000348.3:c.281+13162_281+13165del | NP_000339.2:n.281+13162_281+13165del | |
| XM_011533068.1:c.281+13162_281+13165del | XP_011531370.1:n.281+13162_281+13165del | |
| XM_011533070.1:c.27-33692_27-33689del | XP_011531372.1:n.27-33692_27-33689del | |
| XM_011533071.1:c.27-33692_27-33689del | XP_011531373.1:n.27-33692_27-33689del | |
| XM_011533072.1:c.27-33692_27-33689del | XP_011531374.1:n.27-33692_27-33689del | |
| XM_011533072.2:c.27-33692_27-33689del | XP_011531374.1:n.27-33692_27-33689del | |
| NM_000348.4:c.281+13162_281+13165del MANE Select | NP_000339.2:n.281+13162_281+13165del |