Linked Data
dbSNP Id:
rs1199651709
gnomAD v2:
22-42525265-TC-T
gnomAD v3:
22-42129263-TC-T
gnomAD v4:
22-42129263-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42129268del , CM000684.2:g.42129268del | GRCh38 |
| NC_000022.10:g.42525270del , CM000684.1:g.42525270del | GRCh37 |
| NC_000022.9:g.40855214del | NCBI36 |
| NG_008376.3:g.5728del | |
| NG_008376.4:g.6547del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.353-320del | ENSP00000353241.6:n.353-320del | |
| ENST00000645361.2:c.353-79del MANE Select | ENSP00000496150.1:n.353-79del | |
| ENST00000359033.4:c.353-320del | ENSP00000351927.4:n.353-320del | |
| ENST00000360124.9:c.173-320del | ENSP00000353241.5:n.173-320del | |
| ENST00000360608.9:c.353-79del | ENSP00000353820.5:n.353-79del | |
| ENST00000389970.7:c.287-79del | ENSP00000374620.4:n.287-79del | |
| ENST00000488442.1:n.1077-79del | ||
| NM_000106.5:c.353-79del | NP_000097.3:n.353-79del | |
| NM_001025161.2:c.353-320del | NP_001020332.2:n.353-320del | |
| XM_011529966.1:c.353-79del | XP_011528268.1:n.353-79del | |
| XM_011529967.1:c.353-79del | XP_011528269.1:n.353-79del | |
| XM_011529968.1:c.353-79del | XP_011528270.1:n.353-79del | |
| XM_011529969.1:c.210-79del | XP_011528271.1:n.210-79del | |
| XM_011529970.1:c.353-320del | XP_011528272.1:n.353-320del | |
| XM_011529971.1:c.210-79del | XP_011528273.1:n.210-79del | |
| XM_011529972.1:c.353-79del | XP_011528274.1:n.353-79del | |
| NM_000106.6:c.353-79del MANE Select | NP_000097.3:n.353-79del | |
| NM_001025161.3:c.353-320del | NP_001020332.2:n.353-320del |