Canonical Allele Identifier: CA1539615644

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016056_37016057delinsTG , CM000667.2:g.37016056_37016057delinsTG	GRCh38
NC_000005.9:g.37016158_37016159delinsTG , CM000667.1:g.37016158_37016159delinsTG	GRCh37
NC_000005.8:g.37051915_37051916delinsTG	NCBI36
NG_006987.1:g.144174_144175delinsTG
NG_006987.2:g.144174_144175delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4662_4663delinsTG MANE Select	ENSP00000282516.8:p.Gly1554=
ENST00000652901.1:c.4662_4663delinsTG	ENSP00000499536.1:p.Gly1554=
ENST00000282516.12:c.4662_4663delinsTG	ENSP00000282516.8:p.Gly1554=
ENST00000448238.2:c.4662_4663delinsTG	ENSP00000406266.2:p.Gly1554=
ENST00000621733.1:c.1-48522_1-48521delinsTG	ENSP00000480694.1:n.1-48522_1-48521delinsTG
NM_015384.4:c.4662_4663delinsTG	NP_056199.2:p.Gly1554=
NM_133433.3:c.4662_4663delinsTG	NP_597677.2:p.Gly1554=
XM_005248280.2:c.4662_4663delinsTG	XP_005248337.1:p.Gly1554=
XM_005248282.3:c.3918_3919delinsTG	XP_005248339.2:p.Gly1306=
XM_006714467.2:c.4662_4663delinsTG	XP_006714530.1:p.Gly1554=
XM_006714468.1:c.4464_4465delinsTG	XP_006714531.1:p.Gly1488=
XM_011514014.1:c.4281_4282delinsTG	XP_011512316.1:p.Gly1427=
XM_011514015.1:c.4662_4663delinsTG	XP_011512317.1:p.Gly1554=
XM_005248280.3:c.4662_4663delinsTG	XP_005248337.1:p.Gly1554=
XM_005248282.5:c.4002_4003delinsTG	XP_005248339.3:p.Gly1334=
XM_006714468.2:c.4464_4465delinsTG	XP_006714531.1:p.Gly1488=
XM_017009329.1:c.4662_4663delinsTG	XP_016864818.1:p.Gly1554=
XM_017009330.2:c.3045_3046delinsTG	XP_016864819.1:p.Gly1015=
XM_017009331.1:c.3036_3037delinsTG	XP_016864820.1:p.Gly1012=
NM_133433.4:c.4662_4663delinsTG MANE Select	NP_597677.2:p.Gly1554=
NM_015384.5:c.4662_4663delinsTG	NP_056199.2:p.Gly1554=