Canonical Allele Identifier: CA1539619042

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020275_37020276delinsGT , CM000667.2:g.37020275_37020276delinsGT	GRCh38
NC_000005.9:g.37020377_37020378delinsGT , CM000667.1:g.37020377_37020378delinsGT	GRCh37
NC_000005.8:g.37056134_37056135delinsGT	NCBI36
NG_006987.1:g.148393_148394delinsGT
NG_006987.2:g.148393_148394delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5011-184_5011-183delinsGT MANE Select	ENSP00000282516.8:n.5011-184_5011-183delinsGT
ENST00000652901.1:c.5011-184_5011-183delinsGT	ENSP00000499536.1:n.5011-184_5011-183delinsGT
ENST00000282516.12:c.5011-184_5011-183delinsGT	ENSP00000282516.8:n.5011-184_5011-183delinsGT
ENST00000448238.2:c.5011-184_5011-183delinsGT	ENSP00000406266.2:n.5011-184_5011-183delinsGT
ENST00000621733.1:c.1-44303_1-44302delinsGT	ENSP00000480694.1:n.1-44303_1-44302delinsGT
NM_015384.4:c.5011-184_5011-183delinsGT	NP_056199.2:n.5011-184_5011-183delinsGT
NM_133433.3:c.5011-184_5011-183delinsGT	NP_597677.2:n.5011-184_5011-183delinsGT
XM_005248280.2:c.5011-184_5011-183delinsGT	XP_005248337.1:n.5011-184_5011-183delinsGT
XM_005248282.3:c.4267-184_4267-183delinsGT	XP_005248339.2:n.4267-184_4267-183delinsGT
XM_006714467.2:c.5011-184_5011-183delinsGT	XP_006714530.1:n.5011-184_5011-183delinsGT
XM_006714468.1:c.4813-184_4813-183delinsGT	XP_006714531.1:n.4813-184_4813-183delinsGT
XM_011514014.1:c.4630-184_4630-183delinsGT	XP_011512316.1:n.4630-184_4630-183delinsGT
XM_011514015.1:c.5011-184_5011-183delinsGT	XP_011512317.1:n.5011-184_5011-183delinsGT
XM_005248280.3:c.5011-184_5011-183delinsGT	XP_005248337.1:n.5011-184_5011-183delinsGT
XM_005248282.5:c.4351-184_4351-183delinsGT	XP_005248339.3:n.4351-184_4351-183delinsGT
XM_006714468.2:c.4813-184_4813-183delinsGT	XP_006714531.1:n.4813-184_4813-183delinsGT
XM_017009329.1:c.5011-184_5011-183delinsGT	XP_016864818.1:n.5011-184_5011-183delinsGT
XM_017009330.2:c.3394-184_3394-183delinsGT	XP_016864819.1:n.3394-184_3394-183delinsGT
XM_017009331.1:c.3385-184_3385-183delinsGT	XP_016864820.1:n.3385-184_3385-183delinsGT
NM_133433.4:c.5011-184_5011-183delinsGT MANE Select	NP_597677.2:n.5011-184_5011-183delinsGT
NM_015384.5:c.5011-184_5011-183delinsGT	NP_056199.2:n.5011-184_5011-183delinsGT