Canonical Allele Identifier: CA2695204415

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045508_37045511del , CM000667.2:g.37045508_37045511del	GRCh38
NC_000005.9:g.37045610_37045613del , CM000667.1:g.37045610_37045613del	GRCh37
NC_000005.8:g.37081367_37081370del	NCBI36
NG_006987.1:g.173626_173629del
NG_006987.2:g.173626_173629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6409_6412del MANE Select	ENSP00000282516.8:p.Lys2137GlnfsTer?
ENST00000652901.1:c.6409_6412del	ENSP00000499536.1:p.Lys2137GlnfsTer?
ENST00000282516.12:c.6409_6412del	ENSP00000282516.8:p.Lys2137GlnfsTer?
ENST00000448238.2:c.6409_6412del	ENSP00000406266.2:p.Lys2137GlnfsTer?
ENST00000621733.1:c.1-19070_1-19067del	ENSP00000480694.1:n.1-19070_1-19067del
NM_015384.4:c.6409_6412del	NP_056199.2:p.Lys2137GlnfsTer?
NM_133433.3:c.6409_6412del	NP_597677.2:p.Lys2137GlnfsTer?
XM_005248280.2:c.6409_6412del	XP_005248337.1:p.Lys2137GlnfsTer?
XM_005248282.3:c.5665_5668del	XP_005248339.2:p.Lys1889GlnfsTer?
XM_006714467.2:c.6409_6412del	XP_006714530.1:p.Lys2137GlnfsTer?
XM_006714468.1:c.6211_6214del	XP_006714531.1:p.Lys2071GlnfsTer?
XM_011514014.1:c.6028_6031del	XP_011512316.1:p.Lys2010GlnfsTer?
XM_011514015.1:c.6409_6412del	XP_011512317.1:p.Lys2137GlnfsTer?
XM_005248280.3:c.6409_6412del	XP_005248337.1:p.Lys2137GlnfsTer?
XM_005248282.5:c.5749_5752del	XP_005248339.3:p.Lys1917GlnfsTer?
XM_006714468.2:c.6211_6214del	XP_006714531.1:p.Lys2071GlnfsTer?
XM_017009329.1:c.6409_6412del	XP_016864818.1:p.Lys2137GlnfsTer?
XM_017009330.2:c.4792_4795del	XP_016864819.1:p.Lys1598GlnfsTer?
XM_017009331.1:c.4783_4786del	XP_016864820.1:p.Lys1595GlnfsTer?
NM_133433.4:c.6409_6412del MANE Select	NP_597677.2:p.Lys2137GlnfsTer?
NM_015384.5:c.6409_6412del	NP_056199.2:p.Lys2137GlnfsTer?