Canonical Allele Identifier: CA645547469

Gene: NIPBL

Linked Data

• COSMIC: COSM6438369 ; COSM6438370

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36986055_36986056delinsTT , CM000667.2:g.36986055_36986056delinsTT	GRCh38
NC_000005.9:g.36986157_36986158delinsTT , CM000667.1:g.36986157_36986158delinsTT	GRCh37
NC_000005.8:g.37021914_37021915delinsTT	NCBI36
NG_006987.1:g.114173_114174delinsTT
NG_006987.2:g.114173_114174delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2875_2876delinsTT MANE Select	ENSP00000282516.8:p.Pro959Leu
ENST00000652901.1:c.2875_2876delinsTT	ENSP00000499536.1:p.Pro959Leu
ENST00000282516.12:c.2875_2876delinsTT	ENSP00000282516.8:p.Pro959Leu
ENST00000448238.2:c.2875_2876delinsTT	ENSP00000406266.2:p.Pro959Leu
ENST00000504430.5:n.2495_2496delinsTT
ENST00000621733.1:c.1-78523_1-78522delinsTT	ENSP00000480694.1:n.1-78523_1-78522delinsTT
NM_015384.4:c.2875_2876delinsTT	NP_056199.2:p.Pro959Leu
NM_133433.3:c.2875_2876delinsTT	NP_597677.2:p.Pro959Leu
XM_005248280.2:c.2875_2876delinsTT	XP_005248337.1:p.Pro959Leu
XM_005248282.3:c.2131_2132delinsTT	XP_005248339.2:p.Pro711Leu
XM_006714467.2:c.2875_2876delinsTT	XP_006714530.1:p.Pro959Leu
XM_006714468.1:c.2875_2876delinsTT	XP_006714531.1:p.Pro959Leu
XM_011514014.1:c.2875_2876delinsTT	XP_011512316.1:p.Pro959Leu
XM_011514015.1:c.2875_2876delinsTT	XP_011512317.1:p.Pro959Leu
XM_005248280.3:c.2875_2876delinsTT	XP_005248337.1:p.Pro959Leu
XM_005248282.5:c.2215_2216delinsTT	XP_005248339.3:p.Pro739Leu
XM_006714468.2:c.2875_2876delinsTT	XP_006714531.1:p.Pro959Leu
XM_017009329.1:c.2875_2876delinsTT	XP_016864818.1:p.Pro959Leu
XM_017009330.2:c.1258_1259delinsTT	XP_016864819.1:p.Pro420Leu
XM_017009331.1:c.1496-9567_1496-9566delinsTT	XP_016864820.1:n.1496-9567_1496-9566delinsTT
NM_133433.4:c.2875_2876delinsTT MANE Select	NP_597677.2:p.Pro959Leu
NM_015384.5:c.2875_2876delinsTT	NP_056199.2:p.Pro959Leu