Linked Data
ClinVar Variation Id:
1287121
ClinVar RCV Id:
RCV001708746
dbSNP Id:
rs780599149
gnomAD v2:
9-3932133-GCAGCTATGCAAACCATAGCCATAT-G
gnomAD v3:
9-3932133-GCAGCTATGCAAACCATAGCCATAT-G
gnomAD v4:
9-3932133-GCAGCTATGCAAACCATAGCCATAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.3932178_3932201del , CM000671.2:g.3932178_3932201del | GRCh38 |
| NC_000009.11:g.3932178_3932201del , CM000671.1:g.3932178_3932201del | GRCh37 |
| NC_000009.10:g.3922178_3922201del | NCBI36 |
| NG_011782.1:g.372879_372902del | |
| NG_011782.2:g.372879_372902del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463680.6:n.273+203_273+226del | ||
| ENST00000464391.2:n.541+203_541+226del | ||
| ENST00000491889.6:c.*1346+203_*1346+226del | ENSP00000419914.1:n.*1346+203_*1346+226del | |
| ENST00000645252.2:n.425+203_425+226del | ||
| ENST00000682749.1:c.1518+203_1518+226del | ENSP00000507306.1:n.1518+203_1518+226del | |
| ENST00000682846.1:c.132-102665_132-102642del | ENSP00000507527.1:n.132-102665_132-102642del | |
| ENST00000682864.1:n.482+203_482+226del | ||
| ENST00000381971.8:c.1983+203_1983+226del MANE Select | ENSP00000371398.3:n.1983+203_1983+226del | |
| ENST00000645252.1:n.425+203_425+226del | ||
| ENST00000324333.14:c.1518+203_1518+226del | ENSP00000325494.10:n.1518+203_1518+226del | |
| ENST00000381971.7:c.1983+203_1983+226del | ENSP00000371398.3:n.1983+203_1983+226del | |
| ENST00000461870.5:n.339+203_339+226del | ||
| ENST00000463680.5:n.273+203_273+226del | ||
| ENST00000467497.6:n.523+203_523+226del | ||
| NM_001042413.1:c.1983+203_1983+226del | NP_001035878.1:n.1983+203_1983+226del | |
| NM_152629.3:c.1518+203_1518+226del | NP_689842.3:n.1518+203_1518+226del | |
| XM_005251386.3:c.1518+203_1518+226del | XP_005251443.1:n.1518+203_1518+226del | |
| XM_005251387.3:c.1317+203_1317+226del | XP_005251444.1:n.1317+203_1317+226del | |
| XM_005251388.3:c.1317+203_1317+226del | XP_005251445.1:n.1317+203_1317+226del | |
| XM_011517763.1:c.1983+203_1983+226del | XP_011516065.1:n.1983+203_1983+226del | |
| XM_011517764.1:c.1983+203_1983+226del | XP_011516066.1:n.1983+203_1983+226del | |
| XM_011517765.1:c.1983+203_1983+226del | XP_011516067.1:n.1983+203_1983+226del | |
| XM_011517766.1:c.1518+203_1518+226del | XP_011516068.1:n.1518+203_1518+226del | |
| XM_011517767.1:c.1317+203_1317+226del | XP_011516069.1:n.1317+203_1317+226del | |
| XM_005251386.4:c.1518+203_1518+226del | XP_005251443.1:n.1518+203_1518+226del | |
| XM_005251387.4:c.1317+203_1317+226del | XP_005251444.1:n.1317+203_1317+226del | |
| XM_005251388.4:c.1317+203_1317+226del | XP_005251445.1:n.1317+203_1317+226del | |
| XM_011517763.2:c.1983+203_1983+226del | XP_011516065.1:n.1983+203_1983+226del | |
| XM_011517764.2:c.1983+203_1983+226del | XP_011516066.1:n.1983+203_1983+226del | |
| XM_011517765.2:c.1983+203_1983+226del | XP_011516067.1:n.1983+203_1983+226del | |
| XM_011517766.2:c.1518+203_1518+226del | XP_011516068.1:n.1518+203_1518+226del | |
| XM_011517767.3:c.1317+203_1317+226del | XP_011516069.1:n.1317+203_1317+226del | |
| XM_017014361.1:c.1518+203_1518+226del | XP_016869850.1:n.1518+203_1518+226del | |
| NM_001042413.2:c.1983+203_1983+226del MANE Select | NP_001035878.1:n.1983+203_1983+226del | |
| NM_152629.4:c.1518+203_1518+226del | NP_689842.3:n.1518+203_1518+226del |