Canonical Allele Identifier: CA2695204416

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045506dup , CM000667.2:g.37045506dup	GRCh38
NC_000005.9:g.37045608dup , CM000667.1:g.37045608dup	GRCh37
NC_000005.8:g.37081365dup	NCBI36
NG_006987.1:g.173624dup
NG_006987.2:g.173624dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6407dup MANE Select	ENSP00000282516.8:p.Asn2136LysfsTer7
ENST00000652901.1:c.6407dup	ENSP00000499536.1:p.Asn2136LysfsTer7
ENST00000282516.12:c.6407dup	ENSP00000282516.8:p.Asn2136LysfsTer7
ENST00000448238.2:c.6407dup	ENSP00000406266.2:p.Asn2136LysfsTer7
ENST00000621733.1:c.1-19072dup	ENSP00000480694.1:n.1-19072dup
NM_015384.4:c.6407dup	NP_056199.2:p.Asn2136LysfsTer7
NM_133433.3:c.6407dup	NP_597677.2:p.Asn2136LysfsTer7
XM_005248280.2:c.6407dup	XP_005248337.1:p.Asn2136LysfsTer7
XM_005248282.3:c.5663dup	XP_005248339.2:p.Asn1888LysfsTer7
XM_006714467.2:c.6407dup	XP_006714530.1:p.Asn2136LysfsTer7
XM_006714468.1:c.6209dup	XP_006714531.1:p.Asn2070LysfsTer7
XM_011514014.1:c.6026dup	XP_011512316.1:p.Asn2009LysfsTer7
XM_011514015.1:c.6407dup	XP_011512317.1:p.Asn2136LysfsTer7
XM_005248280.3:c.6407dup	XP_005248337.1:p.Asn2136LysfsTer7
XM_005248282.5:c.5747dup	XP_005248339.3:p.Asn1916LysfsTer7
XM_006714468.2:c.6209dup	XP_006714531.1:p.Asn2070LysfsTer7
XM_017009329.1:c.6407dup	XP_016864818.1:p.Asn2136LysfsTer7
XM_017009330.2:c.4790dup	XP_016864819.1:p.Asn1597LysfsTer7
XM_017009331.1:c.4781dup	XP_016864820.1:p.Asn1594LysfsTer7
NM_133433.4:c.6407dup MANE Select	NP_597677.2:p.Asn2136LysfsTer7
NM_015384.5:c.6407dup	NP_056199.2:p.Asn2136LysfsTer7