Canonical Allele Identifier: CA1539568812
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36975736_36975739delinsAACC , CM000667.2:g.36975736_36975739delinsAACC GRCh38
NC_000005.9:g.36975838_36975841delinsAACC , CM000667.1:g.36975838_36975841delinsAACC GRCh37
NC_000005.8:g.37011595_37011598delinsAACC NCBI36
NG_006987.1:g.103854_103857delinsAACC
NG_006987.2:g.103854_103857delinsAACC

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.869-40_869-37delinsAACC MANE Select ENSP00000282516.8:n.869-40_869-37delinsAACC
ENST00000652901.1:c.869-40_869-37delinsAACC ENSP00000499536.1:n.869-40_869-37delinsAACC
ENST00000282516.12:c.869-40_869-37delinsAACC ENSP00000282516.8:n.869-40_869-37delinsAACC
ENST00000448238.2:c.869-40_869-37delinsAACC ENSP00000406266.2:n.869-40_869-37delinsAACC
ENST00000504430.5:n.489-40_489-37delinsAACC
ENST00000505998.5:n.848-40_848-37delinsAACC
ENST00000621733.1:c.1-88842_1-88839delinsAACC ENSP00000480694.1:n.1-88842_1-88839delinsAACC
NM_015384.4:c.869-40_869-37delinsAACC NP_056199.2:n.869-40_869-37delinsAACC
NM_133433.3:c.869-40_869-37delinsAACC NP_597677.2:n.869-40_869-37delinsAACC
XM_005248280.2:c.869-40_869-37delinsAACC XP_005248337.1:n.869-40_869-37delinsAACC
XM_005248282.3:c.125-40_125-37delinsAACC XP_005248339.2:n.125-40_125-37delinsAACC
XM_006714467.2:c.869-40_869-37delinsAACC XP_006714530.1:n.869-40_869-37delinsAACC
XM_006714468.1:c.869-40_869-37delinsAACC XP_006714531.1:n.869-40_869-37delinsAACC
XM_011514014.1:c.869-40_869-37delinsAACC XP_011512316.1:n.869-40_869-37delinsAACC
XM_011514015.1:c.869-40_869-37delinsAACC XP_011512317.1:n.869-40_869-37delinsAACC
XM_005248280.3:c.869-40_869-37delinsAACC XP_005248337.1:n.869-40_869-37delinsAACC
XM_005248282.5:c.209-40_209-37delinsAACC XP_005248339.3:n.209-40_209-37delinsAACC
XM_006714468.2:c.869-40_869-37delinsAACC XP_006714531.1:n.869-40_869-37delinsAACC
XM_017009329.1:c.869-40_869-37delinsAACC XP_016864818.1:n.869-40_869-37delinsAACC
XM_017009331.1:c.869-40_869-37delinsAACC XP_016864820.1:n.869-40_869-37delinsAACC
NM_133433.4:c.869-40_869-37delinsAACC MANE Select NP_597677.2:n.869-40_869-37delinsAACC
NM_015384.5:c.869-40_869-37delinsAACC NP_056199.2:n.869-40_869-37delinsAACC