Canonical Allele Identifier: CA2765908589
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876833_36876834insCAC , CM000667.2:g.36876833_36876834insCAC GRCh38
NC_000005.9:g.36876935_36876936insCAC , CM000667.1:g.36876935_36876936insCAC GRCh37
NC_000005.8:g.36912692_36912693insCAC NCBI36
NG_006987.1:g.4951_4952insCAC
NG_006987.2:g.4951_4952insCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.-425_-424insCAC MANE Select ENSP00000282516.8:n.-425_-424insCAC
ENST00000282516.12:c.-425_-424insCAC ENSP00000282516.8:n.-425_-424insCAC
ENST00000448238.2:c.-425_-424insCAC ENSP00000406266.2:n.-425_-424insCAC
NM_015384.4:c.-425_-424insCAC NP_056199.2:n.-425_-424insCAC
NM_133433.3:c.-425_-424insCAC NP_597677.2:n.-425_-424insCAC
XM_005248280.2:c.-425_-424insCAC XP_005248337.1:n.-425_-424insCAC
XM_006714467.2:c.-425_-424insCAC XP_006714530.1:n.-425_-424insCAC
XM_006714468.1:c.-425_-424insCAC XP_006714531.1:n.-425_-424insCAC
XM_011514014.1:c.-425_-424insCAC XP_011512316.1:n.-425_-424insCAC
XM_011514015.1:c.-425_-424insCAC XP_011512317.1:n.-425_-424insCAC
XM_005248280.3:c.-425_-424insCAC XP_005248337.1:n.-425_-424insCAC
XM_006714468.2:c.-425_-424insCAC XP_006714531.1:n.-425_-424insCAC
XM_017009329.1:c.-425_-424insCAC XP_016864818.1:n.-425_-424insCAC
XM_017009331.1:c.-425_-424insCAC XP_016864820.1:n.-425_-424insCAC
NM_133433.4:c.-425_-424insCAC MANE Select NP_597677.2:n.-425_-424insCAC
NM_015384.5:c.-425_-424insCAC NP_056199.2:n.-425_-424insCAC