Canonical Allele Identifier: CA1539619232

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020539_37020542delinsTGAA , CM000667.2:g.37020539_37020542delinsTGAA	GRCh38
NC_000005.9:g.37020641_37020644delinsTGAA , CM000667.1:g.37020641_37020644delinsTGAA	GRCh37
NC_000005.8:g.37056398_37056401delinsTGAA	NCBI36
NG_006987.1:g.148657_148660delinsTGAA
NG_006987.2:g.148657_148660delinsTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5091_5094delinsTGAA MANE Select	ENSP00000282516.8:p.Asp1697=
ENST00000652901.1:c.5091_5094delinsTGAA	ENSP00000499536.1:p.Asp1697=
ENST00000282516.12:c.5091_5094delinsTGAA	ENSP00000282516.8:p.Asp1697=
ENST00000448238.2:c.5091_5094delinsTGAA	ENSP00000406266.2:p.Asp1697=
ENST00000621733.1:c.1-44039_1-44036delinsTGAA	ENSP00000480694.1:n.1-44039_1-44036delinsTGAA
NM_015384.4:c.5091_5094delinsTGAA	NP_056199.2:p.Asp1697=
NM_133433.3:c.5091_5094delinsTGAA	NP_597677.2:p.Asp1697=
XM_005248280.2:c.5091_5094delinsTGAA	XP_005248337.1:p.Asp1697=
XM_005248282.3:c.4347_4350delinsTGAA	XP_005248339.2:p.Asp1449=
XM_006714467.2:c.5091_5094delinsTGAA	XP_006714530.1:p.Asp1697=
XM_006714468.1:c.4893_4896delinsTGAA	XP_006714531.1:p.Asp1631=
XM_011514014.1:c.4710_4713delinsTGAA	XP_011512316.1:p.Asp1570=
XM_011514015.1:c.5091_5094delinsTGAA	XP_011512317.1:p.Asp1697=
XM_005248280.3:c.5091_5094delinsTGAA	XP_005248337.1:p.Asp1697=
XM_005248282.5:c.4431_4434delinsTGAA	XP_005248339.3:p.Asp1477=
XM_006714468.2:c.4893_4896delinsTGAA	XP_006714531.1:p.Asp1631=
XM_017009329.1:c.5091_5094delinsTGAA	XP_016864818.1:p.Asp1697=
XM_017009330.2:c.3474_3477delinsTGAA	XP_016864819.1:p.Asp1158=
XM_017009331.1:c.3465_3468delinsTGAA	XP_016864820.1:p.Asp1155=
NM_133433.4:c.5091_5094delinsTGAA MANE Select	NP_597677.2:p.Asp1697=
NM_015384.5:c.5091_5094delinsTGAA	NP_056199.2:p.Asp1697=