Linked Data
dbSNP Id:
rs768735311
ExAC:
5:37064614 CT / C
gnomAD v2:
5-37064614-CT-C
gnomAD v4:
5-37064512-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37064513del , CM000667.2:g.37064513del | GRCh38 |
| NC_000005.9:g.37064615del , CM000667.1:g.37064615del | GRCh37 |
| NC_000005.8:g.37100372del | NCBI36 |
| NG_006987.1:g.192631del | |
| NG_006987.2:g.192631del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.8050-14del (NIPBL) MANE Select | ENSP00000282516.8:n.8050-14del | |
| ENST00000652901.1:c.7944-14del (NIPBL) | ENSP00000499536.1:n.7944-14del | |
| ENST00000282516.12:c.8050-14del (NIPBL) | ENSP00000282516.8:n.8050-14del | |
| ENST00000514335.1:n.1973-14del (NIPBL) | ||
| ENST00000621733.1:c.1-65del (NIPBL) | ENSP00000480694.1:n.1-65del | |
| NM_015384.4:c.*490del (NIPBL) | NP_056199.2:n.*490del | |
| NM_133433.3:c.8050-14del (NIPBL) | NP_597677.2:n.8050-14del | |
| XM_005248280.2:c.8091-14del (NIPBL) | XP_005248337.1:n.8091-14del | |
| XM_005248282.3:c.7306-14del (NIPBL) | XP_005248339.2:n.7306-14del | |
| XM_006714467.2:c.7903-14del (NIPBL) | XP_006714530.1:n.7903-14del | |
| XM_006714468.1:c.7852-14del (NIPBL) | XP_006714531.1:n.7852-14del | |
| XM_011514014.1:c.7669-14del (NIPBL) | XP_011512316.1:n.7669-14del | |
| XM_005248280.3:c.8091-14del (NIPBL) | XP_005248337.1:n.8091-14del | |
| XM_005248282.5:c.7390-14del (NIPBL) | XP_005248339.3:n.7390-14del | |
| XM_006714468.2:c.7852-14del (NIPBL) | XP_006714531.1:n.7852-14del | |
| XM_017009329.1:c.7944-14del (NIPBL) | XP_016864818.1:n.7944-14del | |
| XM_017009330.2:c.6433-14del (NIPBL) | XP_016864819.1:n.6433-14del | |
| XM_017009331.1:c.6424-14del (NIPBL) | XP_016864820.1:n.6424-14del | |
| XR_925644.2:n.12169del (CPLANE1) | ||
| NM_133433.4:c.8050-14del (NIPBL) MANE Select | NP_597677.2:n.8050-14del | |
| NM_015384.5:c.*490del (NIPBL) | NP_056199.2:n.*490del |