Canonical Allele Identifier: CA2695204316

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985001_36985004del , CM000667.2:g.36985001_36985004del	GRCh38
NC_000005.9:g.36985103_36985106del , CM000667.1:g.36985103_36985106del	GRCh37
NC_000005.8:g.37020860_37020863del	NCBI36
NG_006987.1:g.113119_113122del
NG_006987.2:g.113119_113122del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.1821_1824del MANE Select	ENSP00000282516.8:p.Glu607AspfsTer6
ENST00000652901.1:c.1821_1824del	ENSP00000499536.1:p.Glu607AspfsTer6
ENST00000282516.12:c.1821_1824del	ENSP00000282516.8:p.Glu607AspfsTer6
ENST00000448238.2:c.1821_1824del	ENSP00000406266.2:p.Glu607AspfsTer6
ENST00000504430.5:n.1441_1444del
ENST00000621733.1:c.1-79577_1-79574del	ENSP00000480694.1:n.1-79577_1-79574del
NM_015384.4:c.1821_1824del	NP_056199.2:p.Glu607AspfsTer6
NM_133433.3:c.1821_1824del	NP_597677.2:p.Glu607AspfsTer6
XM_005248280.2:c.1821_1824del	XP_005248337.1:p.Glu607AspfsTer6
XM_005248282.3:c.1077_1080del	XP_005248339.2:p.Glu359AspfsTer6
XM_006714467.2:c.1821_1824del	XP_006714530.1:p.Glu607AspfsTer6
XM_006714468.1:c.1821_1824del	XP_006714531.1:p.Glu607AspfsTer6
XM_011514014.1:c.1821_1824del	XP_011512316.1:p.Glu607AspfsTer6
XM_011514015.1:c.1821_1824del	XP_011512317.1:p.Glu607AspfsTer6
XM_005248280.3:c.1821_1824del	XP_005248337.1:p.Glu607AspfsTer6
XM_005248282.5:c.1161_1164del	XP_005248339.3:p.Glu387AspfsTer6
XM_006714468.2:c.1821_1824del	XP_006714531.1:p.Glu607AspfsTer6
XM_017009329.1:c.1821_1824del	XP_016864818.1:p.Glu607AspfsTer6
XM_017009330.2:c.204_207del	XP_016864819.1:p.Glu68AspfsTer6
XM_017009331.1:c.1495+8599_1495+8602del	XP_016864820.1:n.1495+8599_1495+8602del
NM_133433.4:c.1821_1824del MANE Select	NP_597677.2:p.Glu607AspfsTer6
NM_015384.5:c.1821_1824del	NP_056199.2:p.Glu607AspfsTer6