Canonical Allele Identifier: CA1539589749

Gene: NIPBL CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064393_37064395delinsCAT , CM000667.2:g.37064393_37064395delinsCAT	GRCh38
NC_000005.9:g.37064495_37064497delinsCAT , CM000667.1:g.37064495_37064497delinsCAT	GRCh37
NC_000005.8:g.37100252_37100254delinsCAT	NCBI36
NG_006987.1:g.192511_192513delinsCAT
NG_006987.2:g.192511_192513delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8050-134_8050-132delinsCAT (NIPBL) MANE Select	ENSP00000282516.8:n.8050-134_8050-132delinsCAT
ENST00000652901.1:c.7944-134_7944-132delinsCAT (NIPBL)	ENSP00000499536.1:n.7944-134_7944-132delinsCAT
ENST00000282516.12:c.8050-134_8050-132delinsCAT (NIPBL)	ENSP00000282516.8:n.8050-134_8050-132delinsCAT
ENST00000514335.1:n.1973-134_1973-132delinsCAT (NIPBL)
ENST00000621733.1:c.1-185_1-183delinsCAT (NIPBL)	ENSP00000480694.1:n.1-185_1-183delinsCAT
NM_015384.4:c.*370_*372delinsCAT (NIPBL)	NP_056199.2:n.*370_*372delinsCAT
NM_133433.3:c.8050-134_8050-132delinsCAT (NIPBL)	NP_597677.2:n.8050-134_8050-132delinsCAT
XM_005248280.2:c.8091-134_8091-132delinsCAT (NIPBL)	XP_005248337.1:n.8091-134_8091-132delinsCAT
XM_005248282.3:c.7306-134_7306-132delinsCAT (NIPBL)	XP_005248339.2:n.7306-134_7306-132delinsCAT
XM_006714467.2:c.7903-134_7903-132delinsCAT (NIPBL)	XP_006714530.1:n.7903-134_7903-132delinsCAT
XM_006714468.1:c.7852-134_7852-132delinsCAT (NIPBL)	XP_006714531.1:n.7852-134_7852-132delinsCAT
XM_011514014.1:c.7669-134_7669-132delinsCAT (NIPBL)	XP_011512316.1:n.7669-134_7669-132delinsCAT
XM_005248280.3:c.8091-134_8091-132delinsCAT (NIPBL)	XP_005248337.1:n.8091-134_8091-132delinsCAT
XM_005248282.5:c.7390-134_7390-132delinsCAT (NIPBL)	XP_005248339.3:n.7390-134_7390-132delinsCAT
XM_006714468.2:c.7852-134_7852-132delinsCAT (NIPBL)	XP_006714531.1:n.7852-134_7852-132delinsCAT
XM_017009329.1:c.7944-134_7944-132delinsCAT (NIPBL)	XP_016864818.1:n.7944-134_7944-132delinsCAT
XM_017009330.2:c.6433-134_6433-132delinsCAT (NIPBL)	XP_016864819.1:n.6433-134_6433-132delinsCAT
XM_017009331.1:c.6424-134_6424-132delinsCAT (NIPBL)	XP_016864820.1:n.6424-134_6424-132delinsCAT
XR_925644.2:n.12287_12289delinsATG (CPLANE1)
NM_133433.4:c.8050-134_8050-132delinsCAT (NIPBL) MANE Select	NP_597677.2:n.8050-134_8050-132delinsCAT
NM_015384.5:c.*370_*372delinsCAT (NIPBL)	NP_056199.2:n.*370_*372delinsCAT