Canonical Allele Identifier: CA1539603106

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37002662_37002665delinsGTGA , CM000667.2:g.37002662_37002665delinsGTGA	GRCh38
NC_000005.9:g.37002764_37002767delinsGTGA , CM000667.1:g.37002764_37002767delinsGTGA	GRCh37
NC_000005.8:g.37038521_37038524delinsGTGA	NCBI36
NG_006987.1:g.130780_130783delinsGTGA
NG_006987.2:g.130780_130783delinsGTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3665_3668delinsGTGA MANE Select	ENSP00000282516.8:p.Gly1222=
ENST00000652901.1:c.3665_3668delinsGTGA	ENSP00000499536.1:p.Gly1222=
ENST00000282516.12:c.3665_3668delinsGTGA	ENSP00000282516.8:p.Gly1222=
ENST00000448238.2:c.3665_3668delinsGTGA	ENSP00000406266.2:p.Gly1222=
ENST00000621733.1:c.1-61916_1-61913delinsGTGA	ENSP00000480694.1:n.1-61916_1-61913delins...
NM_015384.4:c.3665_3668delinsGTGA	NP_056199.2:p.Gly1222=
NM_133433.3:c.3665_3668delinsGTGA	NP_597677.2:p.Gly1222=
XM_005248280.2:c.3665_3668delinsGTGA	XP_005248337.1:p.Gly1222=
XM_005248282.3:c.2921_2924delinsGTGA	XP_005248339.2:p.Gly974=
XM_006714467.2:c.3665_3668delinsGTGA	XP_006714530.1:p.Gly1222=
XM_006714468.1:c.3467_3470delinsGTGA	XP_006714531.1:p.Gly1156=
XM_011514014.1:c.3284_3287delinsGTGA	XP_011512316.1:p.Gly1095=
XM_011514015.1:c.3665_3668delinsGTGA	XP_011512317.1:p.Gly1222=
XM_005248280.3:c.3665_3668delinsGTGA	XP_005248337.1:p.Gly1222=
XM_005248282.5:c.3005_3008delinsGTGA	XP_005248339.3:p.Gly1002=
XM_006714468.2:c.3467_3470delinsGTGA	XP_006714531.1:p.Gly1156=
XM_017009329.1:c.3665_3668delinsGTGA	XP_016864818.1:p.Gly1222=
XM_017009330.2:c.2048_2051delinsGTGA	XP_016864819.1:p.Gly683=
XM_017009331.1:c.2039_2042delinsGTGA	XP_016864820.1:p.Gly680=
NM_133433.4:c.3665_3668delinsGTGA MANE Select	NP_597677.2:p.Gly1222=
NM_015384.5:c.3665_3668delinsGTGA	NP_056199.2:p.Gly1222=