Canonical Allele Identifier: CA1539589787

Gene: NIPBL CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064402_37064403delinsCA , CM000667.2:g.37064402_37064403delinsCA	GRCh38
NC_000005.9:g.37064504_37064505delinsCA , CM000667.1:g.37064504_37064505delinsCA	GRCh37
NC_000005.8:g.37100261_37100262delinsCA	NCBI36
NG_006987.1:g.192520_192521delinsCA
NG_006987.2:g.192520_192521delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8050-125_8050-124delinsCA (NIPBL) MANE Select	ENSP00000282516.8:n.8050-125_8050-124delinsCA
ENST00000652901.1:c.7944-125_7944-124delinsCA (NIPBL)	ENSP00000499536.1:n.7944-125_7944-124delinsCA
ENST00000282516.12:c.8050-125_8050-124delinsCA (NIPBL)	ENSP00000282516.8:n.8050-125_8050-124delinsCA
ENST00000514335.1:n.1973-125_1973-124delinsCA (NIPBL)
ENST00000621733.1:c.1-176_1-175delinsCA (NIPBL)	ENSP00000480694.1:n.1-176_1-175delinsCA
NM_015384.4:c.*379_*380delinsCA (NIPBL)	NP_056199.2:n.*379_*380delinsCA
NM_133433.3:c.8050-125_8050-124delinsCA (NIPBL)	NP_597677.2:n.8050-125_8050-124delinsCA
XM_005248280.2:c.8091-125_8091-124delinsCA (NIPBL)	XP_005248337.1:n.8091-125_8091-124delinsCA
XM_005248282.3:c.7306-125_7306-124delinsCA (NIPBL)	XP_005248339.2:n.7306-125_7306-124delinsCA
XM_006714467.2:c.7903-125_7903-124delinsCA (NIPBL)	XP_006714530.1:n.7903-125_7903-124delinsCA
XM_006714468.1:c.7852-125_7852-124delinsCA (NIPBL)	XP_006714531.1:n.7852-125_7852-124delinsCA
XM_011514014.1:c.7669-125_7669-124delinsCA (NIPBL)	XP_011512316.1:n.7669-125_7669-124delinsCA
XM_005248280.3:c.8091-125_8091-124delinsCA (NIPBL)	XP_005248337.1:n.8091-125_8091-124delinsCA
XM_005248282.5:c.7390-125_7390-124delinsCA (NIPBL)	XP_005248339.3:n.7390-125_7390-124delinsCA
XM_006714468.2:c.7852-125_7852-124delinsCA (NIPBL)	XP_006714531.1:n.7852-125_7852-124delinsCA
XM_017009329.1:c.7944-125_7944-124delinsCA (NIPBL)	XP_016864818.1:n.7944-125_7944-124delinsCA
XM_017009330.2:c.6433-125_6433-124delinsCA (NIPBL)	XP_016864819.1:n.6433-125_6433-124delinsCA
XM_017009331.1:c.6424-125_6424-124delinsCA (NIPBL)	XP_016864820.1:n.6424-125_6424-124delinsCA
XR_925644.2:n.12279_12280delinsTG (CPLANE1)
NM_133433.4:c.8050-125_8050-124delinsCA (NIPBL) MANE Select	NP_597677.2:n.8050-125_8050-124delinsCA
NM_015384.5:c.*379_*380delinsCA (NIPBL)	NP_056199.2:n.*379_*380delinsCA