Canonical Allele Identifier: CA2541890953

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016123_37016124insCTTGCAGGAACAGTTCTTACAGC , CM000667.2:g.37016123_37016124insCTTGCAGGAACAGTTCTTACAGC	GRCh38
NC_000005.9:g.37016225_37016226insCTTGCAGGAACAGTTCTTACAGC , CM000667.1:g.37016225_37016226insCTTGCAGGAACAGTTCTTACAGC	GRCh37
NC_000005.8:g.37051982_37051983insCTTGCAGGAACAGTTCTTACAGC	NCBI36
NG_006987.1:g.144241_144242insCTTGCAGGAACAGTTCTTACAGC
NG_006987.2:g.144241_144242insCTTGCAGGAACAGTTCTTACAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4729_4730insCTTGCAGGAACAGTTCTTACAGC MANE Select	ENSP00000282516.8:p.Glu1577AlafsTer20
ENST00000652901.1:c.4729_4730insCTTGCAGGAACAGTTCTTACAGC	ENSP00000499536.1:p.Glu1577AlafsTer20
ENST00000282516.12:c.4729_4730insCTTGCAGGAACAGTTCTTACAGC	ENSP00000282516.8:p.Glu1577AlafsTer20
ENST00000448238.2:c.4729_4730insCTTGCAGGAACAGTTCTTACAGC	ENSP00000406266.2:p.Glu1577AlafsTer20
ENST00000621733.1:c.1-48455_1-48454insCTTGCAGGAACAGTTCTTACAGC	ENSP00000480694.1:n.1-48455_1-48454insCTTGCAGGAACAGTTCTTACAGC...
NM_015384.4:c.4729_4730insCTTGCAGGAACAGTTCTTACAGC	NP_056199.2:p.Glu1577AlafsTer20
NM_133433.3:c.4729_4730insCTTGCAGGAACAGTTCTTACAGC	NP_597677.2:p.Glu1577AlafsTer20
XM_005248280.2:c.4729_4730insCTTGCAGGAACAGTTCTTACAGC	XP_005248337.1:p.Glu1577AlafsTer20
XM_005248282.3:c.3985_3986insCTTGCAGGAACAGTTCTTACAGC	XP_005248339.2:p.Glu1329AlafsTer20
XM_006714467.2:c.4729_4730insCTTGCAGGAACAGTTCTTACAGC	XP_006714530.1:p.Glu1577AlafsTer20
XM_006714468.1:c.4531_4532insCTTGCAGGAACAGTTCTTACAGC	XP_006714531.1:p.Glu1511AlafsTer20
XM_011514014.1:c.4348_4349insCTTGCAGGAACAGTTCTTACAGC	XP_011512316.1:p.Glu1450AlafsTer20
XM_011514015.1:c.4729_4730insCTTGCAGGAACAGTTCTTACAGC	XP_011512317.1:p.Glu1577AlafsTer20
XM_005248280.3:c.4729_4730insCTTGCAGGAACAGTTCTTACAGC	XP_005248337.1:p.Glu1577AlafsTer20
XM_005248282.5:c.4069_4070insCTTGCAGGAACAGTTCTTACAGC	XP_005248339.3:p.Glu1357AlafsTer20
XM_006714468.2:c.4531_4532insCTTGCAGGAACAGTTCTTACAGC	XP_006714531.1:p.Glu1511AlafsTer20
XM_017009329.1:c.4729_4730insCTTGCAGGAACAGTTCTTACAGC	XP_016864818.1:p.Glu1577AlafsTer20
XM_017009330.2:c.3112_3113insCTTGCAGGAACAGTTCTTACAGC	XP_016864819.1:p.Glu1038AlafsTer20
XM_017009331.1:c.3103_3104insCTTGCAGGAACAGTTCTTACAGC	XP_016864820.1:p.Glu1035AlafsTer20
NM_133433.4:c.4729_4730insCTTGCAGGAACAGTTCTTACAGC MANE Select	NP_597677.2:p.Glu1577AlafsTer20
NM_015384.5:c.4729_4730insCTTGCAGGAACAGTTCTTACAGC	NP_056199.2:p.Glu1577AlafsTer20