Canonical Allele Identifier: CA1539582264

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985640_36985644delinsTAAAC , CM000667.2:g.36985640_36985644delinsTAAAC	GRCh38
NC_000005.9:g.36985742_36985746delinsTAAAC , CM000667.1:g.36985742_36985746delinsTAAAC	GRCh37
NC_000005.8:g.37021499_37021503delinsTAAAC	NCBI36
NG_006987.1:g.113758_113762delinsTAAAC
NG_006987.2:g.113758_113762delinsTAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2460_2464delinsTAAAC MANE Select	ENSP00000282516.8:p.Asn820=
ENST00000652901.1:c.2460_2464delinsTAAAC	ENSP00000499536.1:p.Asn820=
ENST00000282516.12:c.2460_2464delinsTAAAC	ENSP00000282516.8:p.Asn820=
ENST00000448238.2:c.2460_2464delinsTAAAC	ENSP00000406266.2:p.Asn820=
ENST00000504430.5:n.2080_2084delinsTAAAC
ENST00000621733.1:c.1-78938_1-78934delinsTAAAC	ENSP00000480694.1:n.1-78938_1-78934delinsTAAAC
NM_015384.4:c.2460_2464delinsTAAAC	NP_056199.2:p.Asn820=
NM_133433.3:c.2460_2464delinsTAAAC	NP_597677.2:p.Asn820=
XM_005248280.2:c.2460_2464delinsTAAAC	XP_005248337.1:p.Asn820=
XM_005248282.3:c.1716_1720delinsTAAAC	XP_005248339.2:p.Asn572=
XM_006714467.2:c.2460_2464delinsTAAAC	XP_006714530.1:p.Asn820=
XM_006714468.1:c.2460_2464delinsTAAAC	XP_006714531.1:p.Asn820=
XM_011514014.1:c.2460_2464delinsTAAAC	XP_011512316.1:p.Asn820=
XM_011514015.1:c.2460_2464delinsTAAAC	XP_011512317.1:p.Asn820=
XM_005248280.3:c.2460_2464delinsTAAAC	XP_005248337.1:p.Asn820=
XM_005248282.5:c.1800_1804delinsTAAAC	XP_005248339.3:p.Asn600=
XM_006714468.2:c.2460_2464delinsTAAAC	XP_006714531.1:p.Asn820=
XM_017009329.1:c.2460_2464delinsTAAAC	XP_016864818.1:p.Asn820=
XM_017009330.2:c.843_847delinsTAAAC	XP_016864819.1:p.Asn281=
XM_017009331.1:c.1495+9238_1495+9242delinsTAAAC	XP_016864820.1:n.1495+9238_1495+9242delinsTAAAC
NM_133433.4:c.2460_2464delinsTAAAC MANE Select	NP_597677.2:p.Asn820=
NM_015384.5:c.2460_2464delinsTAAAC	NP_056199.2:p.Asn820=