Canonical Allele Identifier: CA2740629737

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36957984_36957985insG , CM000667.2:g.36957984_36957985insG	GRCh38
NC_000005.9:g.36958086_36958087insG , CM000667.1:g.36958086_36958087insG	GRCh37
NC_000005.8:g.36993843_36993844insG	NCBI36
NG_006987.1:g.86102_86103insG
NG_006987.2:g.86102_86103insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.231-120_231-119insG MANE Select	ENSP00000282516.8:n.231-120_231-119insG
ENST00000652901.1:c.231-120_231-119insG	ENSP00000499536.1:n.231-120_231-119insG
ENST00000282516.12:c.231-120_231-119insG	ENSP00000282516.8:n.231-120_231-119insG
ENST00000448238.2:c.231-120_231-119insG	ENSP00000406266.2:n.231-120_231-119insG
ENST00000505998.5:n.210-120_210-119insG
ENST00000621733.1:c.-1+80962_-1+80963insG	ENSP00000480694.1:n.-1+80962_-1+80963insG
NM_015384.4:c.231-120_231-119insG	NP_056199.2:n.231-120_231-119insG
NM_133433.3:c.231-120_231-119insG	NP_597677.2:n.231-120_231-119insG
XM_005248280.2:c.231-120_231-119insG	XP_005248337.1:n.231-120_231-119insG
XM_006714467.2:c.231-120_231-119insG	XP_006714530.1:n.231-120_231-119insG
XM_006714468.1:c.231-120_231-119insG	XP_006714531.1:n.231-120_231-119insG
XM_011514014.1:c.231-120_231-119insG	XP_011512316.1:n.231-120_231-119insG
XM_011514015.1:c.231-120_231-119insG	XP_011512317.1:n.231-120_231-119insG
XM_005248280.3:c.231-120_231-119insG	XP_005248337.1:n.231-120_231-119insG
XM_006714468.2:c.231-120_231-119insG	XP_006714531.1:n.231-120_231-119insG
XM_017009329.1:c.231-120_231-119insG	XP_016864818.1:n.231-120_231-119insG
XM_017009331.1:c.231-120_231-119insG	XP_016864820.1:n.231-120_231-119insG
NM_133433.4:c.231-120_231-119insG MANE Select	NP_597677.2:n.231-120_231-119insG
NM_015384.5:c.231-120_231-119insG	NP_056199.2:n.231-120_231-119insG