Canonical Allele Identifier: CA2578289403

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020454_37020455del , CM000667.2:g.37020454_37020455del	GRCh38
NC_000005.9:g.37020556_37020557del , CM000667.1:g.37020556_37020557del	GRCh37
NC_000005.8:g.37056313_37056314del	NCBI36
NG_006987.1:g.148572_148573del
NG_006987.2:g.148572_148573del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.5011-5_5011-4del MANE Select	ENSP00000282516.8:n.5011-5_5011-4del
ENST00000652901.1:c.5011-5_5011-4del	ENSP00000499536.1:n.5011-5_5011-4del
ENST00000282516.12:c.5011-5_5011-4del	ENSP00000282516.8:n.5011-5_5011-4del
ENST00000448238.2:c.5011-5_5011-4del	ENSP00000406266.2:n.5011-5_5011-4del
ENST00000621733.1:c.1-44124_1-44123del	ENSP00000480694.1:n.1-44124_1-44123del
NM_015384.4:c.5011-5_5011-4del	NP_056199.2:n.5011-5_5011-4del
NM_133433.3:c.5011-5_5011-4del	NP_597677.2:n.5011-5_5011-4del
XM_005248280.2:c.5011-5_5011-4del	XP_005248337.1:n.5011-5_5011-4del
XM_005248282.3:c.4267-5_4267-4del	XP_005248339.2:n.4267-5_4267-4del
XM_006714467.2:c.5011-5_5011-4del	XP_006714530.1:n.5011-5_5011-4del
XM_006714468.1:c.4813-5_4813-4del	XP_006714531.1:n.4813-5_4813-4del
XM_011514014.1:c.4630-5_4630-4del	XP_011512316.1:n.4630-5_4630-4del
XM_011514015.1:c.5011-5_5011-4del	XP_011512317.1:n.5011-5_5011-4del
XM_005248280.3:c.5011-5_5011-4del	XP_005248337.1:n.5011-5_5011-4del
XM_005248282.5:c.4351-5_4351-4del	XP_005248339.3:n.4351-5_4351-4del
XM_006714468.2:c.4813-5_4813-4del	XP_006714531.1:n.4813-5_4813-4del
XM_017009329.1:c.5011-5_5011-4del	XP_016864818.1:n.5011-5_5011-4del
XM_017009330.2:c.3394-5_3394-4del	XP_016864819.1:n.3394-5_3394-4del
XM_017009331.1:c.3385-5_3385-4del	XP_016864820.1:n.3385-5_3385-4del
NM_133433.4:c.5011-5_5011-4del MANE Select	NP_597677.2:n.5011-5_5011-4del
NM_015384.5:c.5011-5_5011-4del	NP_056199.2:n.5011-5_5011-4del