Canonical Allele Identifier: CA1539601996

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37001337_37001339delinsCTG , CM000667.2:g.37001337_37001339delinsCTG	GRCh38
NC_000005.9:g.37001439_37001441delinsCTG , CM000667.1:g.37001439_37001441delinsCTG	GRCh37
NC_000005.8:g.37037196_37037198delinsCTG	NCBI36
NG_006987.1:g.129455_129457delinsCTG
NG_006987.2:g.129455_129457delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3664+259_3664+261delinsCTG MANE Select	ENSP00000282516.8:n.3664+259_3664+261delinsCTG
ENST00000652901.1:c.3664+259_3664+261delinsCTG	ENSP00000499536.1:n.3664+259_3664+261delinsCTG
ENST00000282516.12:c.3664+259_3664+261delinsCTG	ENSP00000282516.8:n.3664+259_3664+261delinsCTG
ENST00000448238.2:c.3664+259_3664+261delinsCTG	ENSP00000406266.2:n.3664+259_3664+261delinsCTG
ENST00000621733.1:c.1-63241_1-63239delinsCTG	ENSP00000480694.1:n.1-63241_1-63239delinsCTG
NM_015384.4:c.3664+259_3664+261delinsCTG	NP_056199.2:n.3664+259_3664+261delinsCTG
NM_133433.3:c.3664+259_3664+261delinsCTG	NP_597677.2:n.3664+259_3664+261delinsCTG
XM_005248280.2:c.3664+259_3664+261delinsCTG	XP_005248337.1:n.3664+259_3664+261delinsCTG
XM_005248282.3:c.2920+259_2920+261delinsCTG	XP_005248339.2:n.2920+259_2920+261delinsCTG
XM_006714467.2:c.3664+259_3664+261delinsCTG	XP_006714530.1:n.3664+259_3664+261delinsCTG
XM_006714468.1:c.3466+259_3466+261delinsCTG	XP_006714531.1:n.3466+259_3466+261delinsCTG
XM_011514014.1:c.3283+259_3283+261delinsCTG	XP_011512316.1:n.3283+259_3283+261delinsCTG
XM_011514015.1:c.3664+259_3664+261delinsCTG	XP_011512317.1:n.3664+259_3664+261delinsCTG
XM_005248280.3:c.3664+259_3664+261delinsCTG	XP_005248337.1:n.3664+259_3664+261delinsCTG
XM_005248282.5:c.3004+259_3004+261delinsCTG	XP_005248339.3:n.3004+259_3004+261delinsCTG
XM_006714468.2:c.3466+259_3466+261delinsCTG	XP_006714531.1:n.3466+259_3466+261delinsCTG
XM_017009329.1:c.3664+259_3664+261delinsCTG	XP_016864818.1:n.3664+259_3664+261delinsCTG
XM_017009330.2:c.2047+259_2047+261delinsCTG	XP_016864819.1:n.2047+259_2047+261delinsCTG
XM_017009331.1:c.2038+259_2038+261delinsCTG	XP_016864820.1:n.2038+259_2038+261delinsCTG
NM_133433.4:c.3664+259_3664+261delinsCTG MANE Select	NP_597677.2:n.3664+259_3664+261delinsCTG
NM_015384.5:c.3664+259_3664+261delinsCTG	NP_056199.2:n.3664+259_3664+261delinsCTG