Linked Data
dbSNP Id:
rs771197643
ExAC:
19:38989722 TCTGA / T
gnomAD v2:
19-38989722-TCTGA-T
gnomAD v3:
19-38499082-TCTGA-T
gnomAD v4:
19-38499082-TCTGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38499087_38499090del , CM000681.2:g.38499087_38499090del | GRCh38 |
| NC_000019.9:g.38989727_38989730del , CM000681.1:g.38989727_38989730del | GRCh37 |
| NC_000019.8:g.43681567_43681570del | NCBI36 |
| NG_008866.1:g.70388_70391del , LRG_766:g.70388_70391del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.6892-21_6892-18del | ENSP00000471601.2:n.6892-21_6892-18del | |
| ENST00000359596.8:c.6892-21_6892-18del MANE Select | ENSP00000352608.2:n.6892-21_6892-18del | |
| ENST00000355481.8:c.6892-21_6892-18del | ENSP00000347667.3:n.6892-21_6892-18del | |
| ENST00000359596.7:c.6892-21_6892-18del | ENSP00000352608.2:n.6892-21_6892-18del | |
| ENST00000360985.7:c.6889-21_6889-18del | ENSP00000354254.4:n.6889-21_6889-18del | |
| ENST00000594335.5:c.344-21_344-18del | ||
| NM_000540.2:c.6892-21_6892-18del , LRG_766t1:c.6892-21_6892-18del | NP_000531.2:n.6892-21_6892-18del | |
| NM_001042723.1:c.6892-21_6892-18del | NP_001036188.1:n.6892-21_6892-18del | |
| XM_006723317.1:c.6892-21_6892-18del | XP_006723380.1:n.6892-21_6892-18del | |
| XM_006723319.1:c.6892-21_6892-18del | XP_006723382.1:n.6892-21_6892-18del | |
| XM_011527204.1:c.6889-21_6889-18del | XP_011525506.1:n.6889-21_6889-18del | |
| XM_011527205.1:c.6892-21_6892-18del | XP_011525507.1:n.6892-21_6892-18del | |
| XM_006723317.2:c.6892-21_6892-18del | XP_006723380.1:n.6892-21_6892-18del | |
| XM_006723319.2:c.6892-21_6892-18del | XP_006723382.1:n.6892-21_6892-18del | |
| XM_011527205.2:c.6892-21_6892-18del | XP_011525507.1:n.6892-21_6892-18del | |
| XR_001753735.1:n.6975-21_6975-18del | ||
| NM_000540.3:c.6892-21_6892-18del MANE Select | NP_000531.2:n.6892-21_6892-18del | |
| NM_001042723.2:c.6892-21_6892-18del | NP_001036188.1:n.6892-21_6892-18del |