Canonical Allele Identifier: CA2560314661

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051869_37051870insTACGAG , CM000667.2:g.37051869_37051870insTACGAG	GRCh38
NC_000005.9:g.37051971_37051972insTACGAG , CM000667.1:g.37051971_37051972insTACGAG	GRCh37
NC_000005.8:g.37087728_37087729insTACGAG	NCBI36
NG_006987.1:g.179987_179988insTACGAG
NG_006987.2:g.179987_179988insTACGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7045_7046insTACGAG MANE Select	ENSP00000282516.8:p.Tyr2349delinsLeuArgAsp
ENST00000652901.1:c.7045_7046insTACGAG	ENSP00000499536.1:p.Tyr2349delinsLeuArgAsp
ENST00000282516.12:c.7045_7046insTACGAG	ENSP00000282516.8:p.Tyr2349delinsLeuArgAsp
ENST00000448238.2:c.7045_7046insTACGAG	ENSP00000406266.2:p.Tyr2349delinsLeuArgAsp
ENST00000514335.1:n.927_928insTACGAG
ENST00000621733.1:c.1-12709_1-12708insTACGAG	ENSP00000480694.1:n.1-12709_1-12708insTACGAG
NM_015384.4:c.7045_7046insTACGAG	NP_056199.2:p.Tyr2349delinsLeuArgAsp
NM_133433.3:c.7045_7046insTACGAG	NP_597677.2:p.Tyr2349delinsLeuArgAsp
XM_005248280.2:c.7045_7046insTACGAG	XP_005248337.1:p.Tyr2349delinsLeuArgAsp
XM_005248282.3:c.6301_6302insTACGAG	XP_005248339.2:p.Tyr2101delinsLeuArgAsp
XM_006714467.2:c.7045_7046insTACGAG	XP_006714530.1:p.Tyr2349delinsLeuArgAsp
XM_006714468.1:c.6847_6848insTACGAG	XP_006714531.1:p.Tyr2283delinsLeuArgAsp
XM_011514014.1:c.6664_6665insTACGAG	XP_011512316.1:p.Tyr2222delinsLeuArgAsp
XM_011514015.1:c.7045_7046insTACGAG	XP_011512317.1:p.Tyr2349delinsLeuArgAsp
XM_005248280.3:c.7045_7046insTACGAG	XP_005248337.1:p.Tyr2349delinsLeuArgAsp
XM_005248282.5:c.6385_6386insTACGAG	XP_005248339.3:p.Tyr2129delinsLeuArgAsp
XM_006714468.2:c.6847_6848insTACGAG	XP_006714531.1:p.Tyr2283delinsLeuArgAsp
XM_017009329.1:c.7045_7046insTACGAG	XP_016864818.1:p.Tyr2349delinsLeuArgAsp
XM_017009330.2:c.5428_5429insTACGAG	XP_016864819.1:p.Tyr1810delinsLeuArgAsp
XM_017009331.1:c.5419_5420insTACGAG	XP_016864820.1:p.Tyr1807delinsLeuArgAsp
NM_133433.4:c.7045_7046insTACGAG MANE Select	NP_597677.2:p.Tyr2349delinsLeuArgAsp
NM_015384.5:c.7045_7046insTACGAG	NP_056199.2:p.Tyr2349delinsLeuArgAsp