Canonical Allele Identifier: CA1539568672

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36975569_36975570delinsAT , CM000667.2:g.36975569_36975570delinsAT	GRCh38
NC_000005.9:g.36975671_36975672delinsAT , CM000667.1:g.36975671_36975672delinsAT	GRCh37
NC_000005.8:g.37011428_37011429delinsAT	NCBI36
NG_006987.1:g.103687_103688delinsAT
NG_006987.2:g.103687_103688delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.869-207_869-206delinsAT MANE Select	ENSP00000282516.8:n.869-207_869-206delinsAT
ENST00000652901.1:c.869-207_869-206delinsAT	ENSP00000499536.1:n.869-207_869-206delinsAT
ENST00000282516.12:c.869-207_869-206delinsAT	ENSP00000282516.8:n.869-207_869-206delinsAT
ENST00000448238.2:c.869-207_869-206delinsAT	ENSP00000406266.2:n.869-207_869-206delinsAT
ENST00000504430.5:n.489-207_489-206delinsAT
ENST00000505998.5:n.848-207_848-206delinsAT
ENST00000621733.1:c.1-89009_1-89008delinsAT	ENSP00000480694.1:n.1-89009_1-89008delinsAT
NM_015384.4:c.869-207_869-206delinsAT	NP_056199.2:n.869-207_869-206delinsAT
NM_133433.3:c.869-207_869-206delinsAT	NP_597677.2:n.869-207_869-206delinsAT
XM_005248280.2:c.869-207_869-206delinsAT	XP_005248337.1:n.869-207_869-206delinsAT
XM_005248282.3:c.125-207_125-206delinsAT	XP_005248339.2:n.125-207_125-206delinsAT
XM_006714467.2:c.869-207_869-206delinsAT	XP_006714530.1:n.869-207_869-206delinsAT
XM_006714468.1:c.869-207_869-206delinsAT	XP_006714531.1:n.869-207_869-206delinsAT
XM_011514014.1:c.869-207_869-206delinsAT	XP_011512316.1:n.869-207_869-206delinsAT
XM_011514015.1:c.869-207_869-206delinsAT	XP_011512317.1:n.869-207_869-206delinsAT
XM_005248280.3:c.869-207_869-206delinsAT	XP_005248337.1:n.869-207_869-206delinsAT
XM_005248282.5:c.209-207_209-206delinsAT	XP_005248339.3:n.209-207_209-206delinsAT
XM_006714468.2:c.869-207_869-206delinsAT	XP_006714531.1:n.869-207_869-206delinsAT
XM_017009329.1:c.869-207_869-206delinsAT	XP_016864818.1:n.869-207_869-206delinsAT
XM_017009331.1:c.869-207_869-206delinsAT	XP_016864820.1:n.869-207_869-206delinsAT
NM_133433.4:c.869-207_869-206delinsAT MANE Select	NP_597677.2:n.869-207_869-206delinsAT
NM_015384.5:c.869-207_869-206delinsAT	NP_056199.2:n.869-207_869-206delinsAT