Linked Data
dbSNP Id:
rs1288777961
gnomAD v2:
14-21793032-AG-A
gnomAD v3:
14-21324873-AG-A
gnomAD v4:
14-21324873-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21324874del , CM000676.2:g.21324874del | GRCh38 |
| NC_000014.8:g.21793033del , CM000676.1:g.21793033del | GRCh37 |
| NC_000014.7:g.20862873del | NCBI36 |
| NG_008933.1:g.41898del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.2019del MANE Select | ENSP00000382895.2:p.Gln673HisfsTer11 | |
| ENST00000382933.8:c.689-2749del | ENSP00000372391.4:n.689-2749del | |
| ENST00000400017.6:c.2019del | ENSP00000382895.2:p.Gln673HisfsTer11 | |
| ENST00000553500.5:n.328+149del | ||
| ENST00000553927.1:n.951del | ||
| ENST00000554303.1:c.405del | ENSP00000450426.1:p.Gln135HisfsTer? | |
| ENST00000555322.5:c.446del | ||
| ENST00000555489.5:c.213-1del | ENSP00000451044.1:n.213-1del | |
| ENST00000555587.5:c.444del | ENSP00000451262.1:p.Gln148HisfsTer11 | |
| ENST00000556336.5:c.1682-2749del | ENSP00000450445.1:n.1682-2749del | |
| ENST00000557771.5:c.1905del | ENSP00000451219.1:p.Gln635HisfsTer11 | |
| NM_020366.3:c.2019del | NP_065099.3:p.Gln673HisfsTer11 | |
| XM_005267879.2:c.945del | XP_005267936.1:p.Gln315HisfsTer11 | |
| XM_005267880.2:c.912del | XP_005267937.1:p.Gln304HisfsTer11 | |
| XM_005267881.2:c.393del | XP_005267938.1:p.Gln131HisfsTer11 | |
| XM_011536978.1:c.945del | XP_011535280.1:p.Gln315HisfsTer11 | |
| XM_011536979.1:c.797-68del | XP_011535281.1:n.797-68del | |
| XM_011536980.1:c.796+149del | XP_011535282.1:n.796+149del | |
| XM_011536981.1:c.945del | XP_011535283.1:p.Gln315HisfsTer11 | |
| XM_011536982.1:c.796+149del | XP_011535284.1:n.796+149del | |
| XM_011536983.1:c.1986del | XP_011535285.1:p.Gln662HisfsTer11 | |
| XM_005267881.3:c.393del | XP_005267938.1:p.Gln131HisfsTer11 | |
| XM_017021473.1:c.945del | XP_016876962.1:p.Gln315HisfsTer11 | |
| XM_024449663.1:c.945del | XP_024305431.1:p.Gln315HisfsTer11 | |
| XM_024449664.1:c.945del | XP_024305432.1:p.Gln315HisfsTer11 | |
| XM_024449665.1:c.796+149del | XP_024305433.1:n.796+149del | |
| XM_024449666.1:c.796+149del | XP_024305434.1:n.796+149del | |
| NM_001377523.1:c.689-2749del | NP_001364452.1:n.689-2749del | |
| NM_001377948.1:c.945del | NP_001364877.1:p.Gln315HisfsTer11 | |
| NM_001377949.1:c.796+149del | NP_001364878.1:n.796+149del | |
| NM_001377950.1:c.689-2749del | NP_001364879.1:n.689-2749del | |
| NM_001377951.1:c.191-2749del | NP_001364880.1:n.191-2749del | |
| NM_020366.4:c.2019del MANE Select | NP_065099.3:p.Gln673HisfsTer11 |