Canonical Allele Identifier: CA1539615791

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016150_37016154delinsAGTTT , CM000667.2:g.37016150_37016154delinsAGTTT	GRCh38
NC_000005.9:g.37016252_37016256delinsAGTTT , CM000667.1:g.37016252_37016256delinsAGTTT	GRCh37
NC_000005.8:g.37052009_37052013delinsAGTTT	NCBI36
NG_006987.1:g.144268_144272delinsAGTTT
NG_006987.2:g.144268_144272delinsAGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4756_4760delinsAGTTT MANE Select	ENSP00000282516.8:p.Ser1586=
ENST00000652901.1:c.4756_4760delinsAGTTT	ENSP00000499536.1:p.Ser1586=
ENST00000282516.12:c.4756_4760delinsAGTTT	ENSP00000282516.8:p.Ser1586=
ENST00000448238.2:c.4756_4760delinsAGTTT	ENSP00000406266.2:p.Ser1586=
ENST00000621733.1:c.1-48428_1-48424delinsAGTTT	ENSP00000480694.1:n.1-48428_1-48424delinsAGTTT
NM_015384.4:c.4756_4760delinsAGTTT	NP_056199.2:p.Ser1586=
NM_133433.3:c.4756_4760delinsAGTTT	NP_597677.2:p.Ser1586=
XM_005248280.2:c.4756_4760delinsAGTTT	XP_005248337.1:p.Ser1586=
XM_005248282.3:c.4012_4016delinsAGTTT	XP_005248339.2:p.Ser1338=
XM_006714467.2:c.4756_4760delinsAGTTT	XP_006714530.1:p.Ser1586=
XM_006714468.1:c.4558_4562delinsAGTTT	XP_006714531.1:p.Ser1520=
XM_011514014.1:c.4375_4379delinsAGTTT	XP_011512316.1:p.Ser1459=
XM_011514015.1:c.4756_4760delinsAGTTT	XP_011512317.1:p.Ser1586=
XM_005248280.3:c.4756_4760delinsAGTTT	XP_005248337.1:p.Ser1586=
XM_005248282.5:c.4096_4100delinsAGTTT	XP_005248339.3:p.Ser1366=
XM_006714468.2:c.4558_4562delinsAGTTT	XP_006714531.1:p.Ser1520=
XM_017009329.1:c.4756_4760delinsAGTTT	XP_016864818.1:p.Ser1586=
XM_017009330.2:c.3139_3143delinsAGTTT	XP_016864819.1:p.Ser1047=
XM_017009331.1:c.3130_3134delinsAGTTT	XP_016864820.1:p.Ser1044=
NM_133433.4:c.4756_4760delinsAGTTT MANE Select	NP_597677.2:p.Ser1586=
NM_015384.5:c.4756_4760delinsAGTTT	NP_056199.2:p.Ser1586=