Canonical Allele Identifier: CA444095669

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.36985298dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985196dup , CM000667.2:g.36985196dup	GRCh38
NC_000005.9:g.36985298dup , CM000667.1:g.36985298dup	GRCh37
NC_000005.8:g.37021055dup	NCBI36
NG_006987.1:g.113314dup
NG_006987.2:g.113314dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2016dup MANE Select	ENSP00000282516.8:p.Gln673ThrfsTer3
ENST00000652901.1:c.2016dup	ENSP00000499536.1:p.Gln673ThrfsTer3
ENST00000282516.12:c.2016dup	ENSP00000282516.8:p.Gln673ThrfsTer3
ENST00000448238.2:c.2016dup	ENSP00000406266.2:p.Gln673ThrfsTer3
ENST00000504430.5:n.1636dup
ENST00000621733.1:c.1-79382dup	ENSP00000480694.1:n.1-79382dup
NM_015384.4:c.2016dup	NP_056199.2:p.Gln673ThrfsTer3
NM_133433.3:c.2016dup	NP_597677.2:p.Gln673ThrfsTer3
XM_005248280.2:c.2016dup	XP_005248337.1:p.Gln673ThrfsTer3
XM_005248282.3:c.1272dup	XP_005248339.2:p.Gln425ThrfsTer3
XM_006714467.2:c.2016dup	XP_006714530.1:p.Gln673ThrfsTer3
XM_006714468.1:c.2016dup	XP_006714531.1:p.Gln673ThrfsTer3
XM_011514014.1:c.2016dup	XP_011512316.1:p.Gln673ThrfsTer3
XM_011514015.1:c.2016dup	XP_011512317.1:p.Gln673ThrfsTer3
XM_005248280.3:c.2016dup	XP_005248337.1:p.Gln673ThrfsTer3
XM_005248282.5:c.1356dup	XP_005248339.3:p.Gln453ThrfsTer3
XM_006714468.2:c.2016dup	XP_006714531.1:p.Gln673ThrfsTer3
XM_017009329.1:c.2016dup	XP_016864818.1:p.Gln673ThrfsTer3
XM_017009330.2:c.399dup	XP_016864819.1:p.Gln134ThrfsTer3
XM_017009331.1:c.1495+8794dup	XP_016864820.1:n.1495+8794dup
NM_133433.4:c.2016dup MANE Select	NP_597677.2:p.Gln673ThrfsTer3
NM_015384.5:c.2016dup	NP_056199.2:p.Gln673ThrfsTer3