Canonical Allele Identifier: CA2557489356

Gene: NIPBL CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064310_37064311insA , CM000667.2:g.37064310_37064311insA	GRCh38
NC_000005.9:g.37064412_37064413insA , CM000667.1:g.37064412_37064413insA	GRCh37
NC_000005.8:g.37100169_37100170insA	NCBI36
NG_006987.1:g.192428_192429insA
NG_006987.2:g.192428_192429insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8050-217_8050-216insA (NIPBL) MANE Select	ENSP00000282516.8:n.8050-217_8050-216insA
ENST00000652901.1:c.7944-217_7944-216insA (NIPBL)	ENSP00000499536.1:n.7944-217_7944-216insA
ENST00000282516.12:c.8050-217_8050-216insA (NIPBL)	ENSP00000282516.8:n.8050-217_8050-216insA
ENST00000514335.1:n.1973-217_1973-216insA (NIPBL)
ENST00000621733.1:c.1-268_1-267insA (NIPBL)	ENSP00000480694.1:n.1-268_1-267insA
NM_015384.4:c.*287_*288insA (NIPBL)	NP_056199.2:n.*287_*288insA
NM_133433.3:c.8050-217_8050-216insA (NIPBL)	NP_597677.2:n.8050-217_8050-216insA
XM_005248280.2:c.8091-217_8091-216insA (NIPBL)	XP_005248337.1:n.8091-217_8091-216insA
XM_005248282.3:c.7306-217_7306-216insA (NIPBL)	XP_005248339.2:n.7306-217_7306-216insA
XM_006714467.2:c.7903-217_7903-216insA (NIPBL)	XP_006714530.1:n.7903-217_7903-216insA
XM_006714468.1:c.7852-217_7852-216insA (NIPBL)	XP_006714531.1:n.7852-217_7852-216insA
XM_011514014.1:c.7669-217_7669-216insA (NIPBL)	XP_011512316.1:n.7669-217_7669-216insA
XM_005248280.3:c.8091-217_8091-216insA (NIPBL)	XP_005248337.1:n.8091-217_8091-216insA
XM_005248282.5:c.7390-217_7390-216insA (NIPBL)	XP_005248339.3:n.7390-217_7390-216insA
XM_006714468.2:c.7852-217_7852-216insA (NIPBL)	XP_006714531.1:n.7852-217_7852-216insA
XM_017009329.1:c.7944-217_7944-216insA (NIPBL)	XP_016864818.1:n.7944-217_7944-216insA
XM_017009330.2:c.6433-217_6433-216insA (NIPBL)	XP_016864819.1:n.6433-217_6433-216insA
XM_017009331.1:c.6424-217_6424-216insA (NIPBL)	XP_016864820.1:n.6424-217_6424-216insA
XR_925644.2:n.12371_12372insT (CPLANE1)
NM_133433.4:c.8050-217_8050-216insA (NIPBL) MANE Select	NP_597677.2:n.8050-217_8050-216insA
NM_015384.5:c.*287_*288insA (NIPBL)	NP_056199.2:n.*287_*288insA