Canonical Allele Identifier: CA1539619032

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020259_37020261delinsCAT , CM000667.2:g.37020259_37020261delinsCAT	GRCh38
NC_000005.9:g.37020361_37020363delinsCAT , CM000667.1:g.37020361_37020363delinsCAT	GRCh37
NC_000005.8:g.37056118_37056120delinsCAT	NCBI36
NG_006987.1:g.148377_148379delinsCAT
NG_006987.2:g.148377_148379delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5011-200_5011-198delinsCAT MANE Select	ENSP00000282516.8:n.5011-200_5011-198delinsCAT
ENST00000652901.1:c.5011-200_5011-198delinsCAT	ENSP00000499536.1:n.5011-200_5011-198delinsCAT
ENST00000282516.12:c.5011-200_5011-198delinsCAT	ENSP00000282516.8:n.5011-200_5011-198delinsCAT
ENST00000448238.2:c.5011-200_5011-198delinsCAT	ENSP00000406266.2:n.5011-200_5011-198delinsCAT
ENST00000621733.1:c.1-44319_1-44317delinsCAT	ENSP00000480694.1:n.1-44319_1-44317delinsCAT
NM_015384.4:c.5011-200_5011-198delinsCAT	NP_056199.2:n.5011-200_5011-198delinsCAT
NM_133433.3:c.5011-200_5011-198delinsCAT	NP_597677.2:n.5011-200_5011-198delinsCAT
XM_005248280.2:c.5011-200_5011-198delinsCAT	XP_005248337.1:n.5011-200_5011-198delinsCAT
XM_005248282.3:c.4267-200_4267-198delinsCAT	XP_005248339.2:n.4267-200_4267-198delinsCAT
XM_006714467.2:c.5011-200_5011-198delinsCAT	XP_006714530.1:n.5011-200_5011-198delinsCAT
XM_006714468.1:c.4813-200_4813-198delinsCAT	XP_006714531.1:n.4813-200_4813-198delinsCAT
XM_011514014.1:c.4630-200_4630-198delinsCAT	XP_011512316.1:n.4630-200_4630-198delinsCAT
XM_011514015.1:c.5011-200_5011-198delinsCAT	XP_011512317.1:n.5011-200_5011-198delinsCAT
XM_005248280.3:c.5011-200_5011-198delinsCAT	XP_005248337.1:n.5011-200_5011-198delinsCAT
XM_005248282.5:c.4351-200_4351-198delinsCAT	XP_005248339.3:n.4351-200_4351-198delinsCAT
XM_006714468.2:c.4813-200_4813-198delinsCAT	XP_006714531.1:n.4813-200_4813-198delinsCAT
XM_017009329.1:c.5011-200_5011-198delinsCAT	XP_016864818.1:n.5011-200_5011-198delinsCAT
XM_017009330.2:c.3394-200_3394-198delinsCAT	XP_016864819.1:n.3394-200_3394-198delinsCAT
XM_017009331.1:c.3385-200_3385-198delinsCAT	XP_016864820.1:n.3385-200_3385-198delinsCAT
NM_133433.4:c.5011-200_5011-198delinsCAT MANE Select	NP_597677.2:n.5011-200_5011-198delinsCAT
NM_015384.5:c.5011-200_5011-198delinsCAT	NP_056199.2:n.5011-200_5011-198delinsCAT