Canonical Allele Identifier: CA1539587579

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37022108_37022112delinsTTGTC , CM000667.2:g.37022108_37022112delinsTTGTC	GRCh38
NC_000005.9:g.37022210_37022214delinsTTGTC , CM000667.1:g.37022210_37022214delinsTTGTC	GRCh37
NC_000005.8:g.37057967_37057971delinsTTGTC	NCBI36
NG_006987.1:g.150226_150230delinsTTGTC
NG_006987.2:g.150226_150230delinsTTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5386_5390delinsTTGTC MANE Select	ENSP00000282516.8:p.Leu1796=
ENST00000652901.1:c.5386_5390delinsTTGTC	ENSP00000499536.1:p.Leu1796=
ENST00000282516.12:c.5386_5390delinsTTGTC	ENSP00000282516.8:p.Leu1796=
ENST00000448238.2:c.5386_5390delinsTTGTC	ENSP00000406266.2:p.Leu1796=
ENST00000621733.1:c.1-42470_1-42466delinsTTGTC	ENSP00000480694.1:n.1-42470_1-42466delinsTTGTC
NM_015384.4:c.5386_5390delinsTTGTC	NP_056199.2:p.Leu1796=
NM_133433.3:c.5386_5390delinsTTGTC	NP_597677.2:p.Leu1796=
XM_005248280.2:c.5386_5390delinsTTGTC	XP_005248337.1:p.Leu1796=
XM_005248282.3:c.4642_4646delinsTTGTC	XP_005248339.2:p.Leu1548=
XM_006714467.2:c.5386_5390delinsTTGTC	XP_006714530.1:p.Leu1796=
XM_006714468.1:c.5188_5192delinsTTGTC	XP_006714531.1:p.Leu1730=
XM_011514014.1:c.5005_5009delinsTTGTC	XP_011512316.1:p.Leu1669=
XM_011514015.1:c.5386_5390delinsTTGTC	XP_011512317.1:p.Leu1796=
XM_005248280.3:c.5386_5390delinsTTGTC	XP_005248337.1:p.Leu1796=
XM_005248282.5:c.4726_4730delinsTTGTC	XP_005248339.3:p.Leu1576=
XM_006714468.2:c.5188_5192delinsTTGTC	XP_006714531.1:p.Leu1730=
XM_017009329.1:c.5386_5390delinsTTGTC	XP_016864818.1:p.Leu1796=
XM_017009330.2:c.3769_3773delinsTTGTC	XP_016864819.1:p.Leu1257=
XM_017009331.1:c.3760_3764delinsTTGTC	XP_016864820.1:p.Leu1254=
NM_133433.4:c.5386_5390delinsTTGTC MANE Select	NP_597677.2:p.Leu1796=
NM_015384.5:c.5386_5390delinsTTGTC	NP_056199.2:p.Leu1796=