Canonical Allele Identifier: CA1539590016

Gene: NIPBL CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064506_37064507delinsTC , CM000667.2:g.37064506_37064507delinsTC	GRCh38
NC_000005.9:g.37064608_37064609delinsTC , CM000667.1:g.37064608_37064609delinsTC	GRCh37
NC_000005.8:g.37100365_37100366delinsTC	NCBI36
NG_006987.1:g.192624_192625delinsTC
NG_006987.2:g.192624_192625delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8050-21_8050-20delinsTC (NIPBL) MANE Select	ENSP00000282516.8:n.8050-21_8050-20delinsTC
ENST00000652901.1:c.7944-21_7944-20delinsTC (NIPBL)	ENSP00000499536.1:n.7944-21_7944-20delinsTC
ENST00000282516.12:c.8050-21_8050-20delinsTC (NIPBL)	ENSP00000282516.8:n.8050-21_8050-20delinsTC
ENST00000514335.1:n.1973-21_1973-20delinsTC (NIPBL)
ENST00000621733.1:c.1-72_1-71delinsTC (NIPBL)	ENSP00000480694.1:n.1-72_1-71delinsTC
NM_015384.4:c.*483_*484delinsTC (NIPBL)	NP_056199.2:n.*483_*484delinsTC
NM_133433.3:c.8050-21_8050-20delinsTC (NIPBL)	NP_597677.2:n.8050-21_8050-20delinsTC
XM_005248280.2:c.8091-21_8091-20delinsTC (NIPBL)	XP_005248337.1:n.8091-21_8091-20delinsTC
XM_005248282.3:c.7306-21_7306-20delinsTC (NIPBL)	XP_005248339.2:n.7306-21_7306-20delinsTC
XM_006714467.2:c.7903-21_7903-20delinsTC (NIPBL)	XP_006714530.1:n.7903-21_7903-20delinsTC
XM_006714468.1:c.7852-21_7852-20delinsTC (NIPBL)	XP_006714531.1:n.7852-21_7852-20delinsTC
XM_011514014.1:c.7669-21_7669-20delinsTC (NIPBL)	XP_011512316.1:n.7669-21_7669-20delinsTC
XM_005248280.3:c.8091-21_8091-20delinsTC (NIPBL)	XP_005248337.1:n.8091-21_8091-20delinsTC
XM_005248282.5:c.7390-21_7390-20delinsTC (NIPBL)	XP_005248339.3:n.7390-21_7390-20delinsTC
XM_006714468.2:c.7852-21_7852-20delinsTC (NIPBL)	XP_006714531.1:n.7852-21_7852-20delinsTC
XM_017009329.1:c.7944-21_7944-20delinsTC (NIPBL)	XP_016864818.1:n.7944-21_7944-20delinsTC
XM_017009330.2:c.6433-21_6433-20delinsTC (NIPBL)	XP_016864819.1:n.6433-21_6433-20delinsTC
XM_017009331.1:c.6424-21_6424-20delinsTC (NIPBL)	XP_016864820.1:n.6424-21_6424-20delinsTC
XR_925644.2:n.12175_12176delinsGA (CPLANE1)
NM_133433.4:c.8050-21_8050-20delinsTC (NIPBL) MANE Select	NP_597677.2:n.8050-21_8050-20delinsTC
NM_015384.5:c.*483_*484delinsTC (NIPBL)	NP_056199.2:n.*483_*484delinsTC