Canonical Allele Identifier: CA2695196114

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36957983_36957985delinsCAA , CM000667.2:g.36957983_36957985delinsCAA	GRCh38
NC_000005.9:g.36958085_36958087delinsCAA , CM000667.1:g.36958085_36958087delinsCAA	GRCh37
NC_000005.8:g.36993842_36993844delinsCAA	NCBI36
NG_006987.1:g.86101_86103delinsCAA
NG_006987.2:g.86101_86103delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.231-121_231-119delinsCAA MANE Select	ENSP00000282516.8:n.231-121_231-119delinsCAA
ENST00000652901.1:c.231-121_231-119delinsCAA	ENSP00000499536.1:n.231-121_231-119delinsCAA
ENST00000282516.12:c.231-121_231-119delinsCAA	ENSP00000282516.8:n.231-121_231-119delinsCAA
ENST00000448238.2:c.231-121_231-119delinsCAA	ENSP00000406266.2:n.231-121_231-119delinsCAA
ENST00000505998.5:n.210-121_210-119delinsCAA
ENST00000621733.1:c.-1+80961_-1+80963delinsCAA	ENSP00000480694.1:n.-1+80961_-1+80963delinsCAA
NM_015384.4:c.231-121_231-119delinsCAA	NP_056199.2:n.231-121_231-119delinsCAA
NM_133433.3:c.231-121_231-119delinsCAA	NP_597677.2:n.231-121_231-119delinsCAA
XM_005248280.2:c.231-121_231-119delinsCAA	XP_005248337.1:n.231-121_231-119delinsCAA
XM_006714467.2:c.231-121_231-119delinsCAA	XP_006714530.1:n.231-121_231-119delinsCAA
XM_006714468.1:c.231-121_231-119delinsCAA	XP_006714531.1:n.231-121_231-119delinsCAA
XM_011514014.1:c.231-121_231-119delinsCAA	XP_011512316.1:n.231-121_231-119delinsCAA
XM_011514015.1:c.231-121_231-119delinsCAA	XP_011512317.1:n.231-121_231-119delinsCAA
XM_005248280.3:c.231-121_231-119delinsCAA	XP_005248337.1:n.231-121_231-119delinsCAA
XM_006714468.2:c.231-121_231-119delinsCAA	XP_006714531.1:n.231-121_231-119delinsCAA
XM_017009329.1:c.231-121_231-119delinsCAA	XP_016864818.1:n.231-121_231-119delinsCAA
XM_017009331.1:c.231-121_231-119delinsCAA	XP_016864820.1:n.231-121_231-119delinsCAA
NM_133433.4:c.231-121_231-119delinsCAA MANE Select	NP_597677.2:n.231-121_231-119delinsCAA
NM_015384.5:c.231-121_231-119delinsCAA	NP_056199.2:n.231-121_231-119delinsCAA