Canonical Allele Identifier: CA2837994759

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051789_37051790del , CM000667.2:g.37051789_37051790del	GRCh38
NC_000005.9:g.37051891_37051892del , CM000667.1:g.37051891_37051892del	GRCh37
NC_000005.8:g.37087648_37087649del	NCBI36
NG_006987.1:g.179907_179908del
NG_006987.2:g.179907_179908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6965_6966del MANE Select	ENSP00000282516.8:p.Tyr2322PhefsTer17
ENST00000652901.1:c.6965_6966del	ENSP00000499536.1:p.Tyr2322PhefsTer17
ENST00000282516.12:c.6965_6966del	ENSP00000282516.8:p.Tyr2322PhefsTer17
ENST00000448238.2:c.6965_6966del	ENSP00000406266.2:p.Tyr2322PhefsTer17
ENST00000514335.1:n.847_848del
ENST00000621733.1:c.1-12789_1-12788del	ENSP00000480694.1:n.1-12789_1-12788del
NM_015384.4:c.6965_6966del	NP_056199.2:p.Tyr2322PhefsTer17
NM_133433.3:c.6965_6966del	NP_597677.2:p.Tyr2322PhefsTer17
XM_005248280.2:c.6965_6966del	XP_005248337.1:p.Tyr2322PhefsTer17
XM_005248282.3:c.6221_6222del	XP_005248339.2:p.Tyr2074PhefsTer17
XM_006714467.2:c.6965_6966del	XP_006714530.1:p.Tyr2322PhefsTer17
XM_006714468.1:c.6767_6768del	XP_006714531.1:p.Tyr2256PhefsTer17
XM_011514014.1:c.6584_6585del	XP_011512316.1:p.Tyr2195PhefsTer17
XM_011514015.1:c.6965_6966del	XP_011512317.1:p.Tyr2322PhefsTer17
XM_005248280.3:c.6965_6966del	XP_005248337.1:p.Tyr2322PhefsTer17
XM_005248282.5:c.6305_6306del	XP_005248339.3:p.Tyr2102PhefsTer17
XM_006714468.2:c.6767_6768del	XP_006714531.1:p.Tyr2256PhefsTer17
XM_017009329.1:c.6965_6966del	XP_016864818.1:p.Tyr2322PhefsTer17
XM_017009330.2:c.5348_5349del	XP_016864819.1:p.Tyr1783PhefsTer17
XM_017009331.1:c.5339_5340del	XP_016864820.1:p.Tyr1780PhefsTer17
NM_133433.4:c.6965_6966del MANE Select	NP_597677.2:p.Tyr2322PhefsTer17
NM_015384.5:c.6965_6966del	NP_056199.2:p.Tyr2322PhefsTer17