Canonical Allele Identifier: CA2740097841

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 3065381
• ClinVar RCV Id: RCV003990458

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36984888_36984889del , CM000667.2:g.36984888_36984889del	GRCh38
NC_000005.9:g.36984990_36984991del , CM000667.1:g.36984990_36984991del	GRCh37
NC_000005.8:g.37020747_37020748del	NCBI36
NG_006987.1:g.113006_113007del
NG_006987.2:g.113006_113007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1708_1709del MANE Select	ENSP00000282516.8:p.Ile570GlnfsTer4
ENST00000652901.1:c.1708_1709del	ENSP00000499536.1:p.Ile570GlnfsTer4
ENST00000282516.12:c.1708_1709del	ENSP00000282516.8:p.Ile570GlnfsTer4
ENST00000448238.2:c.1708_1709del	ENSP00000406266.2:p.Ile570GlnfsTer4
ENST00000504430.5:n.1328_1329del
ENST00000621733.1:c.1-79690_1-79689del	ENSP00000480694.1:n.1-79690_1-79689del
NM_015384.4:c.1708_1709del	NP_056199.2:p.Ile570GlnfsTer4
NM_133433.3:c.1708_1709del	NP_597677.2:p.Ile570GlnfsTer4
XM_005248280.2:c.1708_1709del	XP_005248337.1:p.Ile570GlnfsTer4
XM_005248282.3:c.964_965del	XP_005248339.2:p.Ile322GlnfsTer4
XM_006714467.2:c.1708_1709del	XP_006714530.1:p.Ile570GlnfsTer4
XM_006714468.1:c.1708_1709del	XP_006714531.1:p.Ile570GlnfsTer4
XM_011514014.1:c.1708_1709del	XP_011512316.1:p.Ile570GlnfsTer4
XM_011514015.1:c.1708_1709del	XP_011512317.1:p.Ile570GlnfsTer4
XM_005248280.3:c.1708_1709del	XP_005248337.1:p.Ile570GlnfsTer4
XM_005248282.5:c.1048_1049del	XP_005248339.3:p.Ile350GlnfsTer4
XM_006714468.2:c.1708_1709del	XP_006714531.1:p.Ile570GlnfsTer4
XM_017009329.1:c.1708_1709del	XP_016864818.1:p.Ile570GlnfsTer4
XM_017009330.2:c.91_92del	XP_016864819.1:p.Ile31GlnfsTer4
XM_017009331.1:c.1495+8486_1495+8487del	XP_016864820.1:n.1495+8486_1495+8487del
NM_133433.4:c.1708_1709del MANE Select	NP_597677.2:p.Ile570GlnfsTer4
NM_015384.5:c.1708_1709del	NP_056199.2:p.Ile570GlnfsTer4