Canonical Allele Identifier: CA2560312538

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045464_37045466del , CM000667.2:g.37045464_37045466del	GRCh38
NC_000005.9:g.37045566_37045568del , CM000667.1:g.37045566_37045568del	GRCh37
NC_000005.8:g.37081323_37081325del	NCBI36
NG_006987.1:g.173582_173584del
NG_006987.2:g.173582_173584del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6365_6367del MANE Select	ENSP00000282516.8:p.Ser2122_Gln2123delinsLys
ENST00000652901.1:c.6365_6367del	ENSP00000499536.1:p.Ser2122_Gln2123delinsLys
ENST00000282516.12:c.6365_6367del	ENSP00000282516.8:p.Ser2122_Gln2123delinsLys
ENST00000448238.2:c.6365_6367del	ENSP00000406266.2:p.Ser2122_Gln2123delinsLys
ENST00000621733.1:c.1-19114_1-19112del	ENSP00000480694.1:n.1-19114_1-19112del
NM_015384.4:c.6365_6367del	NP_056199.2:p.Ser2122_Gln2123delinsLys
NM_133433.3:c.6365_6367del	NP_597677.2:p.Ser2122_Gln2123delinsLys
XM_005248280.2:c.6365_6367del	XP_005248337.1:p.Ser2122_Gln2123delinsLys
XM_005248282.3:c.5621_5623del	XP_005248339.2:p.Ser1874_Gln1875delinsLys
XM_006714467.2:c.6365_6367del	XP_006714530.1:p.Ser2122_Gln2123delinsLys
XM_006714468.1:c.6167_6169del	XP_006714531.1:p.Ser2056_Gln2057delinsLys
XM_011514014.1:c.5984_5986del	XP_011512316.1:p.Ser1995_Gln1996delinsLys
XM_011514015.1:c.6365_6367del	XP_011512317.1:p.Ser2122_Gln2123delinsLys
XM_005248280.3:c.6365_6367del	XP_005248337.1:p.Ser2122_Gln2123delinsLys
XM_005248282.5:c.5705_5707del	XP_005248339.3:p.Ser1902_Gln1903delinsLys
XM_006714468.2:c.6167_6169del	XP_006714531.1:p.Ser2056_Gln2057delinsLys
XM_017009329.1:c.6365_6367del	XP_016864818.1:p.Ser2122_Gln2123delinsLys
XM_017009330.2:c.4748_4750del	XP_016864819.1:p.Ser1583_Gln1584delinsLys
XM_017009331.1:c.4739_4741del	XP_016864820.1:p.Ser1580_Gln1581delinsLys
NM_133433.4:c.6365_6367del MANE Select	NP_597677.2:p.Ser2122_Gln2123delinsLys
NM_015384.5:c.6365_6367del	NP_056199.2:p.Ser2122_Gln2123delinsLys