Canonical Allele Identifier: CA1539609124

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37009998_37010000delinsAAC , CM000667.2:g.37009998_37010000delinsAAC	GRCh38
NC_000005.9:g.37010100_37010102delinsAAC , CM000667.1:g.37010100_37010102delinsAAC	GRCh37
NC_000005.8:g.37045857_37045859delinsAAC	NCBI36
NG_006987.1:g.138116_138118delinsAAC
NG_006987.2:g.138116_138118delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4422-89_4422-87delinsAAC MANE Select	ENSP00000282516.8:n.4422-89_4422-87delinsAAC
ENST00000652901.1:c.4422-89_4422-87delinsAAC	ENSP00000499536.1:n.4422-89_4422-87delinsAAC
ENST00000282516.12:c.4422-89_4422-87delinsAAC	ENSP00000282516.8:n.4422-89_4422-87delinsAAC
ENST00000448238.2:c.4422-89_4422-87delinsAAC	ENSP00000406266.2:n.4422-89_4422-87delinsAAC
ENST00000621733.1:c.1-54580_1-54578delinsAAC	ENSP00000480694.1:n.1-54580_1-54578delinsAAC
NM_015384.4:c.4422-89_4422-87delinsAAC	NP_056199.2:n.4422-89_4422-87delinsAAC
NM_133433.3:c.4422-89_4422-87delinsAAC	NP_597677.2:n.4422-89_4422-87delinsAAC
XM_005248280.2:c.4422-89_4422-87delinsAAC	XP_005248337.1:n.4422-89_4422-87delinsAAC
XM_005248282.3:c.3678-89_3678-87delinsAAC	XP_005248339.2:n.3678-89_3678-87delinsAAC
XM_006714467.2:c.4422-89_4422-87delinsAAC	XP_006714530.1:n.4422-89_4422-87delinsAAC
XM_006714468.1:c.4224-89_4224-87delinsAAC	XP_006714531.1:n.4224-89_4224-87delinsAAC
XM_011514014.1:c.4041-89_4041-87delinsAAC	XP_011512316.1:n.4041-89_4041-87delinsAAC
XM_011514015.1:c.4422-89_4422-87delinsAAC	XP_011512317.1:n.4422-89_4422-87delinsAAC
XM_005248280.3:c.4422-89_4422-87delinsAAC	XP_005248337.1:n.4422-89_4422-87delinsAAC
XM_005248282.5:c.3762-89_3762-87delinsAAC	XP_005248339.3:n.3762-89_3762-87delinsAAC
XM_006714468.2:c.4224-89_4224-87delinsAAC	XP_006714531.1:n.4224-89_4224-87delinsAAC
XM_017009329.1:c.4422-89_4422-87delinsAAC	XP_016864818.1:n.4422-89_4422-87delinsAAC
XM_017009330.2:c.2805-89_2805-87delinsAAC	XP_016864819.1:n.2805-89_2805-87delinsAAC
XM_017009331.1:c.2796-89_2796-87delinsAAC	XP_016864820.1:n.2796-89_2796-87delinsAAC
NM_133433.4:c.4422-89_4422-87delinsAAC MANE Select	NP_597677.2:n.4422-89_4422-87delinsAAC
NM_015384.5:c.4422-89_4422-87delinsAAC	NP_056199.2:n.4422-89_4422-87delinsAAC