Canonical Allele Identifier: CA1539537127

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36876796_36876800delinsCGAGA , CM000667.2:g.36876796_36876800delinsCGAGA	GRCh38
NC_000005.9:g.36876898_36876902delinsCGAGA , CM000667.1:g.36876898_36876902delinsCGAGA	GRCh37
NC_000005.8:g.36912655_36912659delinsCGAGA	NCBI36
NG_006987.1:g.4914_4918delinsCGAGA
NG_006987.2:g.4914_4918delinsCGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.-462_-458delinsCGAGA MANE Select	ENSP00000282516.8:n.-462_-458delinsCGAGA
ENST00000282516.12:c.-462_-458delinsCGAGA	ENSP00000282516.8:n.-462_-458delinsCGAGA
ENST00000448238.2:c.-462_-458delinsCGAGA	ENSP00000406266.2:n.-462_-458delinsCGAGA
NM_015384.4:c.-462_-458delinsCGAGA	NP_056199.2:n.-462_-458delinsCGAGA
NM_133433.3:c.-462_-458delinsCGAGA	NP_597677.2:n.-462_-458delinsCGAGA
XM_005248280.2:c.-462_-458delinsCGAGA	XP_005248337.1:n.-462_-458delinsCGAGA
XM_006714467.2:c.-462_-458delinsCGAGA	XP_006714530.1:n.-462_-458delinsCGAGA
XM_006714468.1:c.-462_-458delinsCGAGA	XP_006714531.1:n.-462_-458delinsCGAGA
XM_011514014.1:c.-462_-458delinsCGAGA	XP_011512316.1:n.-462_-458delinsCGAGA
XM_011514015.1:c.-462_-458delinsCGAGA	XP_011512317.1:n.-462_-458delinsCGAGA
XM_005248280.3:c.-462_-458delinsCGAGA	XP_005248337.1:n.-462_-458delinsCGAGA
XM_006714468.2:c.-462_-458delinsCGAGA	XP_006714531.1:n.-462_-458delinsCGAGA
XM_017009329.1:c.-462_-458delinsCGAGA	XP_016864818.1:n.-462_-458delinsCGAGA
XM_017009331.1:c.-462_-458delinsCGAGA	XP_016864820.1:n.-462_-458delinsCGAGA
NM_133433.4:c.-462_-458delinsCGAGA MANE Select	NP_597677.2:n.-462_-458delinsCGAGA
NM_015384.5:c.-462_-458delinsCGAGA	NP_056199.2:n.-462_-458delinsCGAGA