Canonical Allele Identifier: CA2541888312

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985757_36985758insTTT , CM000667.2:g.36985757_36985758insTTT	GRCh38
NC_000005.9:g.36985859_36985860insTTT , CM000667.1:g.36985859_36985860insTTT	GRCh37
NC_000005.8:g.37021616_37021617insTTT	NCBI36
NG_006987.1:g.113875_113876insTTT
NG_006987.2:g.113875_113876insTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2577_2578insTTT MANE Select	ENSP00000282516.8:p.Asp859_Ser860insPhe
ENST00000652901.1:c.2577_2578insTTT	ENSP00000499536.1:p.Asp859_Ser860insPhe
ENST00000282516.12:c.2577_2578insTTT	ENSP00000282516.8:p.Asp859_Ser860insPhe
ENST00000448238.2:c.2577_2578insTTT	ENSP00000406266.2:p.Asp859_Ser860insPhe
ENST00000504430.5:n.2197_2198insTTT
ENST00000621733.1:c.1-78821_1-78820insTTT	ENSP00000480694.1:n.1-78821_1-78820insTTT...
NM_015384.4:c.2577_2578insTTT	NP_056199.2:p.Asp859_Ser860insPhe
NM_133433.3:c.2577_2578insTTT	NP_597677.2:p.Asp859_Ser860insPhe
XM_005248280.2:c.2577_2578insTTT	XP_005248337.1:p.Asp859_Ser860insPhe
XM_005248282.3:c.1833_1834insTTT	XP_005248339.2:p.Asp611_Ser612insPhe
XM_006714467.2:c.2577_2578insTTT	XP_006714530.1:p.Asp859_Ser860insPhe
XM_006714468.1:c.2577_2578insTTT	XP_006714531.1:p.Asp859_Ser860insPhe
XM_011514014.1:c.2577_2578insTTT	XP_011512316.1:p.Asp859_Ser860insPhe
XM_011514015.1:c.2577_2578insTTT	XP_011512317.1:p.Asp859_Ser860insPhe
XM_005248280.3:c.2577_2578insTTT	XP_005248337.1:p.Asp859_Ser860insPhe
XM_005248282.5:c.1917_1918insTTT	XP_005248339.3:p.Asp639_Ser640insPhe
XM_006714468.2:c.2577_2578insTTT	XP_006714531.1:p.Asp859_Ser860insPhe
XM_017009329.1:c.2577_2578insTTT	XP_016864818.1:p.Asp859_Ser860insPhe
XM_017009330.2:c.960_961insTTT	XP_016864819.1:p.Asp320_Ser321insPhe
XM_017009331.1:c.1495+9355_1495+9356insTTT	XP_016864820.1:n.1495+9355_1495+9356insTT...
NM_133433.4:c.2577_2578insTTT MANE Select	NP_597677.2:p.Asp859_Ser860insPhe
NM_015384.5:c.2577_2578insTTT	NP_056199.2:p.Asp859_Ser860insPhe