Canonical Allele Identifier: CA2695204329

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985502_36985503del , CM000667.2:g.36985502_36985503del	GRCh38
NC_000005.9:g.36985604_36985605del , CM000667.1:g.36985604_36985605del	GRCh37
NC_000005.8:g.37021361_37021362del	NCBI36
NG_006987.1:g.113620_113621del
NG_006987.2:g.113620_113621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2322_2323del MANE Select	ENSP00000282516.8:p.Lys776ThrfsTer2
ENST00000652901.1:c.2322_2323del	ENSP00000499536.1:p.Lys776ThrfsTer2
ENST00000282516.12:c.2322_2323del	ENSP00000282516.8:p.Lys776ThrfsTer2
ENST00000448238.2:c.2322_2323del	ENSP00000406266.2:p.Lys776ThrfsTer2
ENST00000504430.5:n.1942_1943del
ENST00000621733.1:c.1-79076_1-79075del	ENSP00000480694.1:n.1-79076_1-79075del
NM_015384.4:c.2322_2323del	NP_056199.2:p.Lys776ThrfsTer2
NM_133433.3:c.2322_2323del	NP_597677.2:p.Lys776ThrfsTer2
XM_005248280.2:c.2322_2323del	XP_005248337.1:p.Lys776ThrfsTer2
XM_005248282.3:c.1578_1579del	XP_005248339.2:p.Lys528ThrfsTer2
XM_006714467.2:c.2322_2323del	XP_006714530.1:p.Lys776ThrfsTer2
XM_006714468.1:c.2322_2323del	XP_006714531.1:p.Lys776ThrfsTer2
XM_011514014.1:c.2322_2323del	XP_011512316.1:p.Lys776ThrfsTer2
XM_011514015.1:c.2322_2323del	XP_011512317.1:p.Lys776ThrfsTer2
XM_005248280.3:c.2322_2323del	XP_005248337.1:p.Lys776ThrfsTer2
XM_005248282.5:c.1662_1663del	XP_005248339.3:p.Lys556ThrfsTer2
XM_006714468.2:c.2322_2323del	XP_006714531.1:p.Lys776ThrfsTer2
XM_017009329.1:c.2322_2323del	XP_016864818.1:p.Lys776ThrfsTer2
XM_017009330.2:c.705_706del	XP_016864819.1:p.Lys237ThrfsTer2
XM_017009331.1:c.1495+9100_1495+9101del	XP_016864820.1:n.1495+9100_1495+9101del
NM_133433.4:c.2322_2323del MANE Select	NP_597677.2:p.Lys776ThrfsTer2
NM_015384.5:c.2322_2323del	NP_056199.2:p.Lys776ThrfsTer2