Canonical Allele Identifier: CA2695204360

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060938del , CM000667.2:g.37060938del	GRCh38
NC_000005.9:g.37061040del , CM000667.1:g.37061040del	GRCh37
NC_000005.8:g.37096797del	NCBI36
NG_006987.1:g.189056del
NG_006987.2:g.189056del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7780del MANE Select	ENSP00000282516.8:p.Leu2594TrpfsTer17
ENST00000652901.1:c.7633del	ENSP00000499536.1:p.Leu2545TrpfsTer17
ENST00000282516.12:c.7780del	ENSP00000282516.8:p.Leu2594TrpfsTer17
ENST00000448238.2:c.7780del	ENSP00000406266.2:p.Leu2594TrpfsTer17
ENST00000513819.1:c.263+1773del	ENSP00000421504.1:n.263+1773del
ENST00000514335.1:n.1662del
ENST00000621733.1:c.1-3640del	ENSP00000480694.1:n.1-3640del
NM_015384.4:c.7780del	NP_056199.2:p.Leu2594TrpfsTer17
NM_133433.3:c.7780del	NP_597677.2:p.Leu2594TrpfsTer17
XM_005248280.2:c.7780del	XP_005248337.1:p.Leu2594TrpfsTer17
XM_005248282.3:c.7036del	XP_005248339.2:p.Leu2346TrpfsTer17
XM_006714467.2:c.7633del	XP_006714530.1:p.Leu2545TrpfsTer17
XM_006714468.1:c.7582del	XP_006714531.1:p.Leu2528TrpfsTer17
XM_011514014.1:c.7399del	XP_011512316.1:p.Leu2467TrpfsTer17
XM_005248280.3:c.7780del	XP_005248337.1:p.Leu2594TrpfsTer17
XM_005248282.5:c.7120del	XP_005248339.3:p.Leu2374TrpfsTer17
XM_006714468.2:c.7582del	XP_006714531.1:p.Leu2528TrpfsTer17
XM_017009329.1:c.7633del	XP_016864818.1:p.Leu2545TrpfsTer17
XM_017009330.2:c.6163del	XP_016864819.1:p.Leu2055TrpfsTer17
XM_017009331.1:c.6154del	XP_016864820.1:p.Leu2052TrpfsTer17
NM_133433.4:c.7780del MANE Select	NP_597677.2:p.Leu2594TrpfsTer17
NM_015384.5:c.7780del	NP_056199.2:p.Leu2594TrpfsTer17