Linked Data
dbSNP Id:
rs1471467106
gnomAD v2:
5-37064417-GAC-G
gnomAD v3:
5-37064315-GAC-G
gnomAD v4:
5-37064315-GAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37064318_37064319del , CM000667.2:g.37064318_37064319del | GRCh38 |
| NC_000005.9:g.37064420_37064421del , CM000667.1:g.37064420_37064421del | GRCh37 |
| NC_000005.8:g.37100177_37100178del | NCBI36 |
| NG_006987.1:g.192436_192437del | |
| NG_006987.2:g.192436_192437del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.8050-209_8050-208del (NIPBL) MANE Select | ENSP00000282516.8:n.8050-209_8050-208del | |
| ENST00000652901.1:c.7944-209_7944-208del (NIPBL) | ENSP00000499536.1:n.7944-209_7944-208del | |
| ENST00000282516.12:c.8050-209_8050-208del (NIPBL) | ENSP00000282516.8:n.8050-209_8050-208del | |
| ENST00000514335.1:n.1973-209_1973-208del (NIPBL) | ||
| ENST00000621733.1:c.1-260_1-259del (NIPBL) | ENSP00000480694.1:n.1-260_1-259del | |
| NM_015384.4:c.*295_*296del (NIPBL) | NP_056199.2:n.*295_*296del | |
| NM_133433.3:c.8050-209_8050-208del (NIPBL) | NP_597677.2:n.8050-209_8050-208del | |
| XM_005248280.2:c.8091-209_8091-208del (NIPBL) | XP_005248337.1:n.8091-209_8091-208del | |
| XM_005248282.3:c.7306-209_7306-208del (NIPBL) | XP_005248339.2:n.7306-209_7306-208del | |
| XM_006714467.2:c.7903-209_7903-208del (NIPBL) | XP_006714530.1:n.7903-209_7903-208del | |
| XM_006714468.1:c.7852-209_7852-208del (NIPBL) | XP_006714531.1:n.7852-209_7852-208del | |
| XM_011514014.1:c.7669-209_7669-208del (NIPBL) | XP_011512316.1:n.7669-209_7669-208del | |
| XM_005248280.3:c.8091-209_8091-208del (NIPBL) | XP_005248337.1:n.8091-209_8091-208del | |
| XM_005248282.5:c.7390-209_7390-208del (NIPBL) | XP_005248339.3:n.7390-209_7390-208del | |
| XM_006714468.2:c.7852-209_7852-208del (NIPBL) | XP_006714531.1:n.7852-209_7852-208del | |
| XM_017009329.1:c.7944-209_7944-208del (NIPBL) | XP_016864818.1:n.7944-209_7944-208del | |
| XM_017009330.2:c.6433-209_6433-208del (NIPBL) | XP_016864819.1:n.6433-209_6433-208del | |
| XM_017009331.1:c.6424-209_6424-208del (NIPBL) | XP_016864820.1:n.6424-209_6424-208del | |
| XR_925644.2:n.12365_12366del (CPLANE1) | ||
| NM_133433.4:c.8050-209_8050-208del (NIPBL) MANE Select | NP_597677.2:n.8050-209_8050-208del | |
| NM_015384.5:c.*295_*296del (NIPBL) | NP_056199.2:n.*295_*296del |