Linked Data
dbSNP Id:
rs752408626
gnomAD v2:
11-121489326-GC-G
gnomAD v3:
11-121618617-GC-G
gnomAD v4:
11-121618617-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121618619del , CM000673.2:g.121618619del | GRCh38 |
| NC_000011.9:g.121489328del , CM000673.1:g.121489328del | GRCh37 |
| NC_000011.8:g.120994538del | NCBI36 |
| NG_023313.1:g.171368del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260197.12:c.5605-155del MANE Select | ENSP00000260197.6:n.5605-155del | |
| ENST00000260197.11:c.5605-155del | ENSP00000260197.6:n.5605-155del | |
| ENST00000524633.1:n.771-155del | ||
| ENST00000525532.5:c.2437-155del | ENSP00000434634.1:n.2437-155del | |
| ENST00000527934.1:c.1450-155del | ENSP00000435405.1:n.1450-155del | |
| ENST00000528339.5:n.3242-155del | ||
| ENST00000532694.5:c.2143-155del | ENSP00000432131.1:n.2143-155del | |
| ENST00000534286.5:c.2335-155del | ENSP00000436447.1:n.2335-155del | |
| ENST00000534754.5:n.1767-155del | ||
| NM_003105.5:c.5605-155del | NP_003096.1:n.5605-155del | |
| XM_011542963.1:c.5491-155del | XP_011541265.1:n.5491-155del | |
| XM_011542965.1:c.4066-155del | XP_011541267.1:n.4066-155del | |
| XM_011542966.1:c.2965-155del | XP_011541268.1:n.2965-155del | |
| XM_011542967.1:c.2437-155del | XP_011541269.1:n.2437-155del | |
| XM_011542963.3:c.5491-155del | XP_011541265.1:n.5491-155del | |
| XM_011542965.3:c.4066-155del | XP_011541267.1:n.4066-155del | |
| XM_011542967.3:c.2437-155del | XP_011541269.1:n.2437-155del | |
| XM_017018169.2:c.5293-155del | XP_016873658.1:n.5293-155del | |
| XM_017018170.2:c.5080-155del | XP_016873659.1:n.5080-155del | |
| XM_017018172.2:c.2965-155del | XP_016873661.1:n.2965-155del | |
| NM_003105.6:c.5605-155del MANE Select | NP_003096.2:n.5605-155del |