Canonical Allele Identifier: CA2695204425

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049199del , CM000667.2:g.37049199del	GRCh38
NC_000005.9:g.37049301del , CM000667.1:g.37049301del	GRCh37
NC_000005.8:g.37085058del	NCBI36
NG_006987.1:g.177317del
NG_006987.2:g.177317del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6852del MANE Select	ENSP00000282516.8:p.Lys2284AsnfsTer19
ENST00000652901.1:c.6852del	ENSP00000499536.1:p.Lys2284AsnfsTer19
ENST00000282516.12:c.6852del	ENSP00000282516.8:p.Lys2284AsnfsTer19
ENST00000448238.2:c.6852del	ENSP00000406266.2:p.Lys2284AsnfsTer19
ENST00000621733.1:c.1-15379del	ENSP00000480694.1:n.1-15379del
NM_015384.4:c.6852del	NP_056199.2:p.Lys2284AsnfsTer19
NM_133433.3:c.6852del	NP_597677.2:p.Lys2284AsnfsTer19
XM_005248280.2:c.6852del	XP_005248337.1:p.Lys2284AsnfsTer19
XM_005248282.3:c.6108del	XP_005248339.2:p.Lys2036AsnfsTer19
XM_006714467.2:c.6852del	XP_006714530.1:p.Lys2284AsnfsTer19
XM_006714468.1:c.6654del	XP_006714531.1:p.Lys2218AsnfsTer19
XM_011514014.1:c.6471del	XP_011512316.1:p.Lys2157AsnfsTer19
XM_011514015.1:c.6852del	XP_011512317.1:p.Lys2284AsnfsTer19
XM_005248280.3:c.6852del	XP_005248337.1:p.Lys2284AsnfsTer19
XM_005248282.5:c.6192del	XP_005248339.3:p.Lys2064AsnfsTer19
XM_006714468.2:c.6654del	XP_006714531.1:p.Lys2218AsnfsTer19
XM_017009329.1:c.6852del	XP_016864818.1:p.Lys2284AsnfsTer19
XM_017009330.2:c.5235del	XP_016864819.1:p.Lys1745AsnfsTer19
XM_017009331.1:c.5226del	XP_016864820.1:p.Lys1742AsnfsTer19
NM_133433.4:c.6852del MANE Select	NP_597677.2:p.Lys2284AsnfsTer19
NM_015384.5:c.6852del	NP_056199.2:p.Lys2284AsnfsTer19