Canonical Allele Identifier: CA645547465

Gene: NIPBL

Linked Data

• COSMIC: COSM5978968 ; COSM5978969

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985432dup , CM000667.2:g.36985432dup	GRCh38
NC_000005.9:g.36985534dup , CM000667.1:g.36985534dup	GRCh37
NC_000005.8:g.37021291dup	NCBI36
NG_006987.1:g.113550dup
NG_006987.2:g.113550dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2252dup MANE Select	ENSP00000282516.8:p.Asn751LysfsTer2
ENST00000652901.1:c.2252dup	ENSP00000499536.1:p.Asn751LysfsTer2
ENST00000282516.12:c.2252dup	ENSP00000282516.8:p.Asn751LysfsTer2
ENST00000448238.2:c.2252dup	ENSP00000406266.2:p.Asn751LysfsTer2
ENST00000504430.5:n.1872dup
ENST00000621733.1:c.1-79146dup	ENSP00000480694.1:n.1-79146dup
NM_015384.4:c.2252dup	NP_056199.2:p.Asn751LysfsTer2
NM_133433.3:c.2252dup	NP_597677.2:p.Asn751LysfsTer2
XM_005248280.2:c.2252dup	XP_005248337.1:p.Asn751LysfsTer2
XM_005248282.3:c.1508dup	XP_005248339.2:p.Asn503LysfsTer2
XM_006714467.2:c.2252dup	XP_006714530.1:p.Asn751LysfsTer2
XM_006714468.1:c.2252dup	XP_006714531.1:p.Asn751LysfsTer2
XM_011514014.1:c.2252dup	XP_011512316.1:p.Asn751LysfsTer2
XM_011514015.1:c.2252dup	XP_011512317.1:p.Asn751LysfsTer2
XM_005248280.3:c.2252dup	XP_005248337.1:p.Asn751LysfsTer2
XM_005248282.5:c.1592dup	XP_005248339.3:p.Asn531LysfsTer2
XM_006714468.2:c.2252dup	XP_006714531.1:p.Asn751LysfsTer2
XM_017009329.1:c.2252dup	XP_016864818.1:p.Asn751LysfsTer2
XM_017009330.2:c.635dup	XP_016864819.1:p.Asn212LysfsTer2
XM_017009331.1:c.1495+9030dup	XP_016864820.1:n.1495+9030dup
NM_133433.4:c.2252dup MANE Select	NP_597677.2:p.Asn751LysfsTer2
NM_015384.5:c.2252dup	NP_056199.2:p.Asn751LysfsTer2