Canonical Allele Identifier: CA1539611695

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038825_37038829delinsCACTG , CM000667.2:g.37038825_37038829delinsCACTG	GRCh38
NC_000005.9:g.37038927_37038931delinsCACTG , CM000667.1:g.37038927_37038931delinsCACTG	GRCh37
NC_000005.8:g.37074684_37074688delinsCACTG	NCBI36
NG_006987.1:g.166943_166947delinsCACTG
NG_006987.2:g.166943_166947delinsCACTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6108+87_6108+91delinsCACTG MANE Select	ENSP00000282516.8:n.6108+87_6108+91delinsCACTG
ENST00000652901.1:c.6108+87_6108+91delinsCACTG	ENSP00000499536.1:n.6108+87_6108+91delinsCACTG
ENST00000282516.12:c.6108+87_6108+91delinsCACTG	ENSP00000282516.8:n.6108+87_6108+91delinsCACTG
ENST00000448238.2:c.6108+87_6108+91delinsCACTG	ENSP00000406266.2:n.6108+87_6108+91delinsCACTG
ENST00000621733.1:c.1-25753_1-25749delinsCACTG	ENSP00000480694.1:n.1-25753_1-25749delinsCACTG
NM_015384.4:c.6108+87_6108+91delinsCACTG	NP_056199.2:n.6108+87_6108+91delinsCACTG
NM_133433.3:c.6108+87_6108+91delinsCACTG	NP_597677.2:n.6108+87_6108+91delinsCACTG
XM_005248280.2:c.6108+87_6108+91delinsCACTG	XP_005248337.1:n.6108+87_6108+91delinsCACTG
XM_005248282.3:c.5364+87_5364+91delinsCACTG	XP_005248339.2:n.5364+87_5364+91delinsCACTG
XM_006714467.2:c.6108+87_6108+91delinsCACTG	XP_006714530.1:n.6108+87_6108+91delinsCACTG
XM_006714468.1:c.5910+87_5910+91delinsCACTG	XP_006714531.1:n.5910+87_5910+91delinsCACTG
XM_011514014.1:c.5727+87_5727+91delinsCACTG	XP_011512316.1:n.5727+87_5727+91delinsCACTG
XM_011514015.1:c.6108+87_6108+91delinsCACTG	XP_011512317.1:n.6108+87_6108+91delinsCACTG
XM_005248280.3:c.6108+87_6108+91delinsCACTG	XP_005248337.1:n.6108+87_6108+91delinsCACTG
XM_005248282.5:c.5448+87_5448+91delinsCACTG	XP_005248339.3:n.5448+87_5448+91delinsCACTG
XM_006714468.2:c.5910+87_5910+91delinsCACTG	XP_006714531.1:n.5910+87_5910+91delinsCACTG
XM_017009329.1:c.6108+87_6108+91delinsCACTG	XP_016864818.1:n.6108+87_6108+91delinsCACTG
XM_017009330.2:c.4491+87_4491+91delinsCACTG	XP_016864819.1:n.4491+87_4491+91delinsCACTG
XM_017009331.1:c.4482+87_4482+91delinsCACTG	XP_016864820.1:n.4482+87_4482+91delinsCACTG
NM_133433.4:c.6108+87_6108+91delinsCACTG MANE Select	NP_597677.2:n.6108+87_6108+91delinsCACTG
NM_015384.5:c.6108+87_6108+91delinsCACTG	NP_056199.2:n.6108+87_6108+91delinsCACTG