Canonical Allele Identifier: CA1539590004
Gene: NIPBL HGNC NCBI
CPLANE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37064500_37064501delinsCT , CM000667.2:g.37064500_37064501delinsCT GRCh38
NC_000005.9:g.37064602_37064603delinsCT , CM000667.1:g.37064602_37064603delinsCT GRCh37
NC_000005.8:g.37100359_37100360delinsCT NCBI36
NG_006987.1:g.192618_192619delinsCT
NG_006987.2:g.192618_192619delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.8050-27_8050-26delinsCT (NIPBL) MANE Select ENSP00000282516.8:n.8050-27_8050-26delinsCT
ENST00000652901.1:c.7944-27_7944-26delinsCT (NIPBL) ENSP00000499536.1:n.7944-27_7944-26delinsCT
ENST00000282516.12:c.8050-27_8050-26delinsCT (NIPBL) ENSP00000282516.8:n.8050-27_8050-26delinsCT
ENST00000514335.1:n.1973-27_1973-26delinsCT (NIPBL)
ENST00000621733.1:c.1-78_1-77delinsCT (NIPBL) ENSP00000480694.1:n.1-78_1-77delinsCT
NM_015384.4:c.*477_*478delinsCT (NIPBL) NP_056199.2:n.*477_*478delinsCT
NM_133433.3:c.8050-27_8050-26delinsCT (NIPBL) NP_597677.2:n.8050-27_8050-26delinsCT
XM_005248280.2:c.8091-27_8091-26delinsCT (NIPBL) XP_005248337.1:n.8091-27_8091-26delinsCT
XM_005248282.3:c.7306-27_7306-26delinsCT (NIPBL) XP_005248339.2:n.7306-27_7306-26delinsCT
XM_006714467.2:c.7903-27_7903-26delinsCT (NIPBL) XP_006714530.1:n.7903-27_7903-26delinsCT
XM_006714468.1:c.7852-27_7852-26delinsCT (NIPBL) XP_006714531.1:n.7852-27_7852-26delinsCT
XM_011514014.1:c.7669-27_7669-26delinsCT (NIPBL) XP_011512316.1:n.7669-27_7669-26delinsCT
XM_005248280.3:c.8091-27_8091-26delinsCT (NIPBL) XP_005248337.1:n.8091-27_8091-26delinsCT
XM_005248282.5:c.7390-27_7390-26delinsCT (NIPBL) XP_005248339.3:n.7390-27_7390-26delinsCT
XM_006714468.2:c.7852-27_7852-26delinsCT (NIPBL) XP_006714531.1:n.7852-27_7852-26delinsCT
XM_017009329.1:c.7944-27_7944-26delinsCT (NIPBL) XP_016864818.1:n.7944-27_7944-26delinsCT
XM_017009330.2:c.6433-27_6433-26delinsCT (NIPBL) XP_016864819.1:n.6433-27_6433-26delinsCT
XM_017009331.1:c.6424-27_6424-26delinsCT (NIPBL) XP_016864820.1:n.6424-27_6424-26delinsCT
XR_925644.2:n.12181_12182delinsAG (CPLANE1)
NM_133433.4:c.8050-27_8050-26delinsCT (NIPBL) MANE Select NP_597677.2:n.8050-27_8050-26delinsCT
NM_015384.5:c.*477_*478delinsCT (NIPBL) NP_056199.2:n.*477_*478delinsCT