Canonical Allele Identifier: CA1539573739

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36955575_36955576delinsTA , CM000667.2:g.36955575_36955576delinsTA	GRCh38
NC_000005.9:g.36955677_36955678delinsTA , CM000667.1:g.36955677_36955678delinsTA	GRCh37
NC_000005.8:g.36991434_36991435delinsTA	NCBI36
NG_006987.1:g.83693_83694delinsTA
NG_006987.2:g.83693_83694delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.168_169delinsTA MANE Select	ENSP00000282516.8:p.Cys56=
ENST00000652901.1:c.168_169delinsTA	ENSP00000499536.1:p.Cys56=
ENST00000282516.12:c.168_169delinsTA	ENSP00000282516.8:p.Cys56=
ENST00000448238.2:c.168_169delinsTA	ENSP00000406266.2:p.Cys56=
ENST00000505998.5:n.147_148delinsTA
ENST00000621733.1:c.-1+78553_-1+78554delinsTA	ENSP00000480694.1:n.-1+78553_-1+78554delinsTA
NM_015384.4:c.168_169delinsTA	NP_056199.2:p.Cys56=
NM_133433.3:c.168_169delinsTA	NP_597677.2:p.Cys56=
XM_005248280.2:c.168_169delinsTA	XP_005248337.1:p.Cys56=
XM_006714467.2:c.168_169delinsTA	XP_006714530.1:p.Cys56=
XM_006714468.1:c.168_169delinsTA	XP_006714531.1:p.Cys56=
XM_011514014.1:c.168_169delinsTA	XP_011512316.1:p.Cys56=
XM_011514015.1:c.168_169delinsTA	XP_011512317.1:p.Cys56=
XM_005248280.3:c.168_169delinsTA	XP_005248337.1:p.Cys56=
XM_006714468.2:c.168_169delinsTA	XP_006714531.1:p.Cys56=
XM_017009329.1:c.168_169delinsTA	XP_016864818.1:p.Cys56=
XM_017009331.1:c.168_169delinsTA	XP_016864820.1:p.Cys56=
NM_133433.4:c.168_169delinsTA MANE Select	NP_597677.2:p.Cys56=
NM_015384.5:c.168_169delinsTA	NP_056199.2:p.Cys56=