Canonical Allele Identifier: CA1539615204

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37015811_37015817delinsGTAGTAT , CM000667.2:g.37015811_37015817delinsGTAGTAT	GRCh38
NC_000005.9:g.37015913_37015919delinsGTAGTAT , CM000667.1:g.37015913_37015919delinsGTAGTAT	GRCh37
NC_000005.8:g.37051670_37051676delinsGTAGTAT	NCBI36
NG_006987.1:g.143929_143935delinsGTAGTAT
NG_006987.2:g.143929_143935delinsGTAGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4644-227_4644-221delinsGTAGTAT MANE Select	ENSP00000282516.8:n.4644-227_4644-221delinsGTAGTAT
ENST00000652901.1:c.4644-227_4644-221delinsGTAGTAT	ENSP00000499536.1:n.4644-227_4644-221delinsGTAGTAT
ENST00000282516.12:c.4644-227_4644-221delinsGTAGTAT	ENSP00000282516.8:n.4644-227_4644-221delinsGTAGTAT
ENST00000448238.2:c.4644-227_4644-221delinsGTAGTAT	ENSP00000406266.2:n.4644-227_4644-221delinsGTAGTAT
ENST00000621733.1:c.1-48767_1-48761delinsGTAGTAT	ENSP00000480694.1:n.1-48767_1-48761delinsGTAGTAT
NM_015384.4:c.4644-227_4644-221delinsGTAGTAT	NP_056199.2:n.4644-227_4644-221delinsGTAGTAT
NM_133433.3:c.4644-227_4644-221delinsGTAGTAT	NP_597677.2:n.4644-227_4644-221delinsGTAGTAT
XM_005248280.2:c.4644-227_4644-221delinsGTAGTAT	XP_005248337.1:n.4644-227_4644-221delinsGTAGTAT
XM_005248282.3:c.3900-227_3900-221delinsGTAGTAT	XP_005248339.2:n.3900-227_3900-221delinsGTAGTAT
XM_006714467.2:c.4644-227_4644-221delinsGTAGTAT	XP_006714530.1:n.4644-227_4644-221delinsGTAGTAT
XM_006714468.1:c.4446-227_4446-221delinsGTAGTAT	XP_006714531.1:n.4446-227_4446-221delinsGTAGTAT
XM_011514014.1:c.4263-227_4263-221delinsGTAGTAT	XP_011512316.1:n.4263-227_4263-221delinsGTAGTAT
XM_011514015.1:c.4644-227_4644-221delinsGTAGTAT	XP_011512317.1:n.4644-227_4644-221delinsGTAGTAT
XM_005248280.3:c.4644-227_4644-221delinsGTAGTAT	XP_005248337.1:n.4644-227_4644-221delinsGTAGTAT
XM_005248282.5:c.3984-227_3984-221delinsGTAGTAT	XP_005248339.3:n.3984-227_3984-221delinsGTAGTAT
XM_006714468.2:c.4446-227_4446-221delinsGTAGTAT	XP_006714531.1:n.4446-227_4446-221delinsGTAGTAT
XM_017009329.1:c.4644-227_4644-221delinsGTAGTAT	XP_016864818.1:n.4644-227_4644-221delinsGTAGTAT
XM_017009330.2:c.3027-227_3027-221delinsGTAGTAT	XP_016864819.1:n.3027-227_3027-221delinsGTAGTAT
XM_017009331.1:c.3018-227_3018-221delinsGTAGTAT	XP_016864820.1:n.3018-227_3018-221delinsGTAGTAT
NM_133433.4:c.4644-227_4644-221delinsGTAGTAT MANE Select	NP_597677.2:n.4644-227_4644-221delinsGTAGTAT
NM_015384.5:c.4644-227_4644-221delinsGTAGTAT	NP_056199.2:n.4644-227_4644-221delinsGTAGTAT