Canonical Allele Identifier: CA1539619103

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020437_37020441delinsAGTCT , CM000667.2:g.37020437_37020441delinsAGTCT	GRCh38
NC_000005.9:g.37020539_37020543delinsAGTCT , CM000667.1:g.37020539_37020543delinsAGTCT	GRCh37
NC_000005.8:g.37056296_37056300delinsAGTCT	NCBI36
NG_006987.1:g.148555_148559delinsAGTCT
NG_006987.2:g.148555_148559delinsAGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5011-22_5011-18delinsAGTCT MANE Select	ENSP00000282516.8:n.5011-22_5011-18delinsAGTCT
ENST00000652901.1:c.5011-22_5011-18delinsAGTCT	ENSP00000499536.1:n.5011-22_5011-18delinsAGTCT
ENST00000282516.12:c.5011-22_5011-18delinsAGTCT	ENSP00000282516.8:n.5011-22_5011-18delinsAGTCT
ENST00000448238.2:c.5011-22_5011-18delinsAGTCT	ENSP00000406266.2:n.5011-22_5011-18delinsAGTCT
ENST00000621733.1:c.1-44141_1-44137delinsAGTCT	ENSP00000480694.1:n.1-44141_1-44137delinsAGTCT
NM_015384.4:c.5011-22_5011-18delinsAGTCT	NP_056199.2:n.5011-22_5011-18delinsAGTCT
NM_133433.3:c.5011-22_5011-18delinsAGTCT	NP_597677.2:n.5011-22_5011-18delinsAGTCT
XM_005248280.2:c.5011-22_5011-18delinsAGTCT	XP_005248337.1:n.5011-22_5011-18delinsAGTCT
XM_005248282.3:c.4267-22_4267-18delinsAGTCT	XP_005248339.2:n.4267-22_4267-18delinsAGTCT
XM_006714467.2:c.5011-22_5011-18delinsAGTCT	XP_006714530.1:n.5011-22_5011-18delinsAGTCT
XM_006714468.1:c.4813-22_4813-18delinsAGTCT	XP_006714531.1:n.4813-22_4813-18delinsAGTCT
XM_011514014.1:c.4630-22_4630-18delinsAGTCT	XP_011512316.1:n.4630-22_4630-18delinsAGTCT
XM_011514015.1:c.5011-22_5011-18delinsAGTCT	XP_011512317.1:n.5011-22_5011-18delinsAGTCT
XM_005248280.3:c.5011-22_5011-18delinsAGTCT	XP_005248337.1:n.5011-22_5011-18delinsAGTCT
XM_005248282.5:c.4351-22_4351-18delinsAGTCT	XP_005248339.3:n.4351-22_4351-18delinsAGTCT
XM_006714468.2:c.4813-22_4813-18delinsAGTCT	XP_006714531.1:n.4813-22_4813-18delinsAGTCT
XM_017009329.1:c.5011-22_5011-18delinsAGTCT	XP_016864818.1:n.5011-22_5011-18delinsAGTCT
XM_017009330.2:c.3394-22_3394-18delinsAGTCT	XP_016864819.1:n.3394-22_3394-18delinsAGTCT
XM_017009331.1:c.3385-22_3385-18delinsAGTCT	XP_016864820.1:n.3385-22_3385-18delinsAGTCT
NM_133433.4:c.5011-22_5011-18delinsAGTCT MANE Select	NP_597677.2:n.5011-22_5011-18delinsAGTCT
NM_015384.5:c.5011-22_5011-18delinsAGTCT	NP_056199.2:n.5011-22_5011-18delinsAGTCT