Canonical Allele Identifier: CA2510322677

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052518_37052527del , CM000667.2:g.37052518_37052527del	GRCh38
NC_000005.9:g.37052620_37052629del , CM000667.1:g.37052620_37052629del	GRCh37
NC_000005.8:g.37088377_37088386del	NCBI36
NG_006987.1:g.180636_180645del
NG_006987.2:g.180636_180645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7215_7224del MANE Select	ENSP00000282516.8:p.Arg2406PhefsTer17
ENST00000652901.1:c.7215_7224del	ENSP00000499536.1:p.Arg2406PhefsTer16
ENST00000282516.12:c.7215_7224del	ENSP00000282516.8:p.Arg2406PhefsTer17
ENST00000448238.2:c.7215_7224del	ENSP00000406266.2:p.Arg2406PhefsTer17
ENST00000514335.1:n.1097_1106del
ENST00000621733.1:c.1-12060_1-12051del	ENSP00000480694.1:n.1-12060_1-12051del
NM_015384.4:c.7215_7224del	NP_056199.2:p.Arg2406PhefsTer17
NM_133433.3:c.7215_7224del	NP_597677.2:p.Arg2406PhefsTer17
XM_005248280.2:c.7215_7224del	XP_005248337.1:p.Arg2406PhefsTer17
XM_005248282.3:c.6471_6480del	XP_005248339.2:p.Arg2158PhefsTer17
XM_006714467.2:c.7215_7224del	XP_006714530.1:p.Arg2406PhefsTer16
XM_006714468.1:c.7017_7026del	XP_006714531.1:p.Arg2340PhefsTer17
XM_011514014.1:c.6834_6843del	XP_011512316.1:p.Arg2279PhefsTer17
XM_011514015.1:c.7215_7224del	XP_011512317.1:p.Arg2406PhefsTer?
XM_005248280.3:c.7215_7224del	XP_005248337.1:p.Arg2406PhefsTer17
XM_005248282.5:c.6555_6564del	XP_005248339.3:p.Arg2186PhefsTer17
XM_006714468.2:c.7017_7026del	XP_006714531.1:p.Arg2340PhefsTer17
XM_017009329.1:c.7215_7224del	XP_016864818.1:p.Arg2406PhefsTer16
XM_017009330.2:c.5598_5607del	XP_016864819.1:p.Arg1867PhefsTer17
XM_017009331.1:c.5589_5598del	XP_016864820.1:p.Arg1864PhefsTer17
NM_133433.4:c.7215_7224del MANE Select	NP_597677.2:p.Arg2406PhefsTer17
NM_015384.5:c.7215_7224del	NP_056199.2:p.Arg2406PhefsTer17