Canonical Allele Identifier: CA1539578114

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958113_36958114delinsAG , CM000667.2:g.36958113_36958114delinsAG	GRCh38
NC_000005.9:g.36958215_36958216delinsAG , CM000667.1:g.36958215_36958216delinsAG	GRCh37
NC_000005.8:g.36993972_36993973delinsAG	NCBI36
NG_006987.1:g.86231_86232delinsAG
NG_006987.2:g.86231_86232delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.240_241delinsAG MANE Select	ENSP00000282516.8:p.Lys80=
ENST00000652901.1:c.240_241delinsAG	ENSP00000499536.1:p.Lys80=
ENST00000282516.12:c.240_241delinsAG	ENSP00000282516.8:p.Lys80=
ENST00000448238.2:c.240_241delinsAG	ENSP00000406266.2:p.Lys80=
ENST00000505998.5:n.219_220delinsAG
ENST00000621733.1:c.-1+81091_-1+81092delinsAG	ENSP00000480694.1:n.-1+81091_-1+81092delinsAG
NM_015384.4:c.240_241delinsAG	NP_056199.2:p.Lys80=
NM_133433.3:c.240_241delinsAG	NP_597677.2:p.Lys80=
XM_005248280.2:c.240_241delinsAG	XP_005248337.1:p.Lys80=
XM_006714467.2:c.240_241delinsAG	XP_006714530.1:p.Lys80=
XM_006714468.1:c.240_241delinsAG	XP_006714531.1:p.Lys80=
XM_011514014.1:c.240_241delinsAG	XP_011512316.1:p.Lys80=
XM_011514015.1:c.240_241delinsAG	XP_011512317.1:p.Lys80=
XM_005248280.3:c.240_241delinsAG	XP_005248337.1:p.Lys80=
XM_006714468.2:c.240_241delinsAG	XP_006714531.1:p.Lys80=
XM_017009329.1:c.240_241delinsAG	XP_016864818.1:p.Lys80=
XM_017009331.1:c.240_241delinsAG	XP_016864820.1:p.Lys80=
NM_133433.4:c.240_241delinsAG MANE Select	NP_597677.2:p.Lys80=
NM_015384.5:c.240_241delinsAG	NP_056199.2:p.Lys80=