Canonical Allele Identifier: CA1539580903

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985068_36985071delinsTTGG , CM000667.2:g.36985068_36985071delinsTTGG	GRCh38
NC_000005.9:g.36985170_36985173delinsTTGG , CM000667.1:g.36985170_36985173delinsTTGG	GRCh37
NC_000005.8:g.37020927_37020930delinsTTGG	NCBI36
NG_006987.1:g.113186_113189delinsTTGG
NG_006987.2:g.113186_113189delinsTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1888_1891delinsTTGG MANE Select	ENSP00000282516.8:p.Leu630=
ENST00000652901.1:c.1888_1891delinsTTGG	ENSP00000499536.1:p.Leu630=
ENST00000282516.12:c.1888_1891delinsTTGG	ENSP00000282516.8:p.Leu630=
ENST00000448238.2:c.1888_1891delinsTTGG	ENSP00000406266.2:p.Leu630=
ENST00000504430.5:n.1508_1511delinsTTGG
ENST00000621733.1:c.1-79510_1-79507delinsTTGG	ENSP00000480694.1:n.1-79510_1-79507delinsTTGG
NM_015384.4:c.1888_1891delinsTTGG	NP_056199.2:p.Leu630=
NM_133433.3:c.1888_1891delinsTTGG	NP_597677.2:p.Leu630=
XM_005248280.2:c.1888_1891delinsTTGG	XP_005248337.1:p.Leu630=
XM_005248282.3:c.1144_1147delinsTTGG	XP_005248339.2:p.Leu382=
XM_006714467.2:c.1888_1891delinsTTGG	XP_006714530.1:p.Leu630=
XM_006714468.1:c.1888_1891delinsTTGG	XP_006714531.1:p.Leu630=
XM_011514014.1:c.1888_1891delinsTTGG	XP_011512316.1:p.Leu630=
XM_011514015.1:c.1888_1891delinsTTGG	XP_011512317.1:p.Leu630=
XM_005248280.3:c.1888_1891delinsTTGG	XP_005248337.1:p.Leu630=
XM_005248282.5:c.1228_1231delinsTTGG	XP_005248339.3:p.Leu410=
XM_006714468.2:c.1888_1891delinsTTGG	XP_006714531.1:p.Leu630=
XM_017009329.1:c.1888_1891delinsTTGG	XP_016864818.1:p.Leu630=
XM_017009330.2:c.271_274delinsTTGG	XP_016864819.1:p.Leu91=
XM_017009331.1:c.1495+8666_1495+8669delinsTTGG	XP_016864820.1:n.1495+8666_1495+8669delinsTTGG
NM_133433.4:c.1888_1891delinsTTGG MANE Select	NP_597677.2:p.Leu630=
NM_015384.5:c.1888_1891delinsTTGG	NP_056199.2:p.Leu630=