Linked Data
dbSNP Id:
rs1469198994
gnomAD v2:
3-8802642-TG-T
gnomAD v3:
3-8760956-TG-T
gnomAD v4:
3-8760956-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8760957del , CM000665.2:g.8760957del | GRCh38 |
| NC_000003.11:g.8802643del , CM000665.1:g.8802643del | GRCh37 |
| NC_000003.10:g.8777643del | NCBI36 |
| NG_008797.2:g.32148del , LRG_329:g.32148del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316793.8:c.922+6309del (OXTR) MANE Select | ENSP00000324270.2:n.922+6309del | |
| ENST00000316793.7:c.922+6309del (OXTR) | ENSP00000324270.2:n.922+6309del | |
| ENST00000472766.1:n.156-16520del (CAV3) | ||
| NM_000916.3:c.922+6309del (OXTR) | NP_000907.2:n.922+6309del | |
| XM_011533762.1:c.922+6309del (OXTR) | XP_011532064.1:n.922+6309del | |
| XM_011533763.1:c.922+6309del (OXTR) | XP_011532065.1:n.922+6309del | |
| NM_001354653.1:c.922+6309del (OXTR) | NP_001341582.1:n.922+6309del | |
| NM_001354654.1:c.922+6309del (OXTR) | NP_001341583.1:n.922+6309del | |
| NM_001354655.1:c.922+6309del (OXTR) | NP_001341584.1:n.922+6309del | |
| NM_001354656.1:c.922+6309del (OXTR) | NP_001341585.1:n.922+6309del | |
| NM_001354656.2:c.922+6309del (OXTR) | NP_001341585.1:n.922+6309del | |
| NM_000916.4:c.922+6309del (OXTR) MANE Select | NP_000907.2:n.922+6309del | |
| NM_001354653.2:c.922+6309del (OXTR) | NP_001341582.1:n.922+6309del | |
| NM_001354654.2:c.922+6309del (OXTR) | NP_001341583.1:n.922+6309del | |
| NM_001354655.2:c.922+6309del (OXTR) | NP_001341584.1:n.922+6309del | |
| NM_001354656.3:c.922+6309del (OXTR) | NP_001341585.1:n.922+6309del |