Canonical Allele Identifier: CA1539590336

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs1755210455

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064644_37064647del , CM000667.2:g.37064644_37064647del	GRCh38
NC_000005.9:g.37064746_37064749del , CM000667.1:g.37064746_37064749del	GRCh37
NC_000005.8:g.37100503_37100506del	NCBI36
NG_006987.1:g.192762_192765del
NG_006987.2:g.192762_192765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8167_8170del (NIPBL) MANE Select	ENSP00000282516.8:p.Gln2723LeufsTer4
ENST00000652901.1:c.*111_*114del (NIPBL)	ENSP00000499536.1:n.*111_*114del
ENST00000282516.12:c.8167_8170del (NIPBL)	ENSP00000282516.8:p.Gln2723LeufsTer4
ENST00000514335.1:n.2090_2093del (NIPBL)
ENST00000621733.1:c.67_70del (NIPBL)	ENSP00000480694.1:p.Gln23LeufsTer4
NM_015384.4:c.*621_*624del (NIPBL)	NP_056199.2:n.*621_*624del
NM_133433.3:c.8167_8170del (NIPBL)	NP_597677.2:p.Gln2723LeufsTer4
XM_005248280.2:c.*111_*114del (NIPBL)	XP_005248337.1:n.*111_*114del
XM_005248282.3:c.7423_7426del (NIPBL)	XP_005248339.2:p.Gln2475LeufsTer4
XM_006714467.2:c.8020_8023del (NIPBL)	XP_006714530.1:p.Gln2674LeufsTer4
XM_006714468.1:c.7969_7972del (NIPBL)	XP_006714531.1:p.Gln2657LeufsTer4
XM_011514014.1:c.7786_7789del (NIPBL)	XP_011512316.1:p.Gln2596LeufsTer4
XM_005248280.3:c.*111_*114del (NIPBL)	XP_005248337.1:n.*111_*114del
XM_005248282.5:c.7507_7510del (NIPBL)	XP_005248339.3:p.Gln2503LeufsTer4
XM_006714468.2:c.7969_7972del (NIPBL)	XP_006714531.1:p.Gln2657LeufsTer4
XM_017009329.1:c.*111_*114del (NIPBL)	XP_016864818.1:n.*111_*114del
XM_017009330.2:c.6550_6553del (NIPBL)	XP_016864819.1:p.Gln2184LeufsTer4
XM_017009331.1:c.6541_6544del (NIPBL)	XP_016864820.1:p.Gln2181LeufsTer4
XR_925644.2:n.12036_12039del (CPLANE1)
NM_133433.4:c.8167_8170del (NIPBL) MANE Select	NP_597677.2:p.Gln2723LeufsTer4
NM_015384.5:c.*621_*624del (NIPBL)	NP_056199.2:n.*621_*624del