Canonical Allele Identifier: CA1539600569

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000195_37000196delinsTA , CM000667.2:g.37000195_37000196delinsTA	GRCh38
NC_000005.9:g.37000297_37000298delinsTA , CM000667.1:g.37000297_37000298delinsTA	GRCh37
NC_000005.8:g.37036054_37036055delinsTA	NCBI36
NG_006987.1:g.128313_128314delinsTA
NG_006987.2:g.128313_128314delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3305-178_3305-177delinsTA MANE Select	ENSP00000282516.8:n.3305-178_3305-177delinsTA
ENST00000652901.1:c.3305-178_3305-177delinsTA	ENSP00000499536.1:n.3305-178_3305-177delinsTA
ENST00000282516.12:c.3305-178_3305-177delinsTA	ENSP00000282516.8:n.3305-178_3305-177delinsTA
ENST00000448238.2:c.3305-178_3305-177delinsTA	ENSP00000406266.2:n.3305-178_3305-177delinsTA
ENST00000503274.1:n.656-178_656-177delinsTA
ENST00000621733.1:c.1-64383_1-64382delinsTA	ENSP00000480694.1:n.1-64383_1-64382delinsTA
NM_015384.4:c.3305-178_3305-177delinsTA	NP_056199.2:n.3305-178_3305-177delinsTA
NM_133433.3:c.3305-178_3305-177delinsTA	NP_597677.2:n.3305-178_3305-177delinsTA
XM_005248280.2:c.3305-178_3305-177delinsTA	XP_005248337.1:n.3305-178_3305-177delinsTA
XM_005248282.3:c.2561-178_2561-177delinsTA	XP_005248339.2:n.2561-178_2561-177delinsTA
XM_006714467.2:c.3305-178_3305-177delinsTA	XP_006714530.1:n.3305-178_3305-177delinsTA
XM_006714468.1:c.3305-622_3305-621delinsTA	XP_006714531.1:n.3305-622_3305-621delinsTA
XM_011514014.1:c.3122-622_3122-621delinsTA	XP_011512316.1:n.3122-622_3122-621delinsTA
XM_011514015.1:c.3305-178_3305-177delinsTA	XP_011512317.1:n.3305-178_3305-177delinsTA
XM_005248280.3:c.3305-178_3305-177delinsTA	XP_005248337.1:n.3305-178_3305-177delinsTA
XM_005248282.5:c.2645-178_2645-177delinsTA	XP_005248339.3:n.2645-178_2645-177delinsTA
XM_006714468.2:c.3305-622_3305-621delinsTA	XP_006714531.1:n.3305-622_3305-621delinsTA
XM_017009329.1:c.3305-178_3305-177delinsTA	XP_016864818.1:n.3305-178_3305-177delinsTA
XM_017009330.2:c.1688-178_1688-177delinsTA	XP_016864819.1:n.1688-178_1688-177delinsTA
XM_017009331.1:c.1679-178_1679-177delinsTA	XP_016864820.1:n.1679-178_1679-177delinsTA
NM_133433.4:c.3305-178_3305-177delinsTA MANE Select	NP_597677.2:n.3305-178_3305-177delinsTA
NM_015384.5:c.3305-178_3305-177delinsTA	NP_056199.2:n.3305-178_3305-177delinsTA