Linked Data
dbSNP Id:
rs772243157
ExAC:
3:119132908 TCTCCAC / T
gnomAD v2:
3-119132908-TCTCCAC-T
gnomAD v3:
3-119414061-TCTCCAC-T
gnomAD v4:
3-119414061-TCTCCAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414063_119414068del , CM000665.2:g.119414063_119414068del | GRCh38 |
| NC_000003.11:g.119132910_119132915del , CM000665.1:g.119132910_119132915del | GRCh37 |
| NC_000003.10:g.120615600_120615605del | NCBI36 |
| NG_007665.2:g.124691_124696del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2134_2139del MANE Select | ENSP00000264245.4:p.Ser712_Thr713del | |
| ENST00000264245.8:c.2134_2139del | ENSP00000264245.4:p.Ser712_Thr713del | |
| NM_020754.3:c.2134_2139del | NP_065805.2:p.Ser712_Thr713del | |
| XM_005247671.3:c.2041_2046del | XP_005247728.1:p.Ser681_Thr682del | |
| XM_006713714.2:c.2074_2079del | XP_006713777.1:p.Ser692_Thr693del | |
| XM_006713714.3:c.2074_2079del | XP_006713777.1:p.Ser692_Thr693del | |
| XM_017006955.1:c.1642_1647del | XP_016862444.1:p.Ser548_Thr549del | |
| NM_020754.4:c.2134_2139del MANE Select | NP_065805.2:p.Ser712_Thr713del |