Canonical Allele Identifier: CA1539592959

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995787_36995790delinsGTGA , CM000667.2:g.36995787_36995790delinsGTGA	GRCh38
NC_000005.9:g.36995889_36995892delinsGTGA , CM000667.1:g.36995889_36995892delinsGTGA	GRCh37
NC_000005.8:g.37031646_37031649delinsGTGA	NCBI36
NG_006987.1:g.123905_123908delinsGTGA
NG_006987.2:g.123905_123908delinsGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3287_3290delinsGTGA MANE Select	ENSP00000282516.8:p.Ser1096=
ENST00000652901.1:c.3287_3290delinsGTGA	ENSP00000499536.1:p.Ser1096=
ENST00000282516.12:c.3287_3290delinsGTGA	ENSP00000282516.8:p.Ser1096=
ENST00000448238.2:c.3287_3290delinsGTGA	ENSP00000406266.2:p.Ser1096=
ENST00000503274.1:n.638_641delinsGTGA
ENST00000504430.5:n.2907_2910delinsGTGA
ENST00000509429.1:n.38_41delinsGTGA
ENST00000621733.1:c.1-68791_1-68788delinsGTGA	ENSP00000480694.1:n.1-68791_1-68788delinsGTGA
NM_015384.4:c.3287_3290delinsGTGA	NP_056199.2:p.Ser1096=
NM_133433.3:c.3287_3290delinsGTGA	NP_597677.2:p.Ser1096=
XM_005248280.2:c.3287_3290delinsGTGA	XP_005248337.1:p.Ser1096=
XM_005248282.3:c.2543_2546delinsGTGA	XP_005248339.2:p.Ser848=
XM_006714467.2:c.3287_3290delinsGTGA	XP_006714530.1:p.Ser1096=
XM_006714468.1:c.3287_3290delinsGTGA	XP_006714531.1:p.Ser1096=
XM_011514014.1:c.3122-5030_3122-5027delinsGTGA	XP_011512316.1:n.3122-5030_3122-5027delinsGTGA
XM_011514015.1:c.3287_3290delinsGTGA	XP_011512317.1:p.Ser1096=
XM_005248280.3:c.3287_3290delinsGTGA	XP_005248337.1:p.Ser1096=
XM_005248282.5:c.2627_2630delinsGTGA	XP_005248339.3:p.Ser876=
XM_006714468.2:c.3287_3290delinsGTGA	XP_006714531.1:p.Ser1096=
XM_017009329.1:c.3287_3290delinsGTGA	XP_016864818.1:p.Ser1096=
XM_017009330.2:c.1670_1673delinsGTGA	XP_016864819.1:p.Ser557=
XM_017009331.1:c.1661_1664delinsGTGA	XP_016864820.1:p.Ser554=
NM_133433.4:c.3287_3290delinsGTGA MANE Select	NP_597677.2:p.Ser1096=
NM_015384.5:c.3287_3290delinsGTGA	NP_056199.2:p.Ser1096=