Canonical Allele Identifier: CA1539592930

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995777_36995780delinsGATA , CM000667.2:g.36995777_36995780delinsGATA	GRCh38
NC_000005.9:g.36995879_36995882delinsGATA , CM000667.1:g.36995879_36995882delinsGATA	GRCh37
NC_000005.8:g.37031636_37031639delinsGATA	NCBI36
NG_006987.1:g.123895_123898delinsGATA
NG_006987.2:g.123895_123898delinsGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3277_3280delinsGATA MANE Select	ENSP00000282516.8:p.Asp1093=
ENST00000652901.1:c.3277_3280delinsGATA	ENSP00000499536.1:p.Asp1093=
ENST00000282516.12:c.3277_3280delinsGATA	ENSP00000282516.8:p.Asp1093=
ENST00000448238.2:c.3277_3280delinsGATA	ENSP00000406266.2:p.Asp1093=
ENST00000503274.1:n.628_631delinsGATA
ENST00000504430.5:n.2897_2900delinsGATA
ENST00000509429.1:n.28_31delinsGATA
ENST00000621733.1:c.1-68801_1-68798delinsGATA	ENSP00000480694.1:n.1-68801_1-68798delinsGATA
NM_015384.4:c.3277_3280delinsGATA	NP_056199.2:p.Asp1093=
NM_133433.3:c.3277_3280delinsGATA	NP_597677.2:p.Asp1093=
XM_005248280.2:c.3277_3280delinsGATA	XP_005248337.1:p.Asp1093=
XM_005248282.3:c.2533_2536delinsGATA	XP_005248339.2:p.Asp845=
XM_006714467.2:c.3277_3280delinsGATA	XP_006714530.1:p.Asp1093=
XM_006714468.1:c.3277_3280delinsGATA	XP_006714531.1:p.Asp1093=
XM_011514014.1:c.3122-5040_3122-5037delinsGATA	XP_011512316.1:n.3122-5040_3122-5037delinsGATA
XM_011514015.1:c.3277_3280delinsGATA	XP_011512317.1:p.Asp1093=
XM_005248280.3:c.3277_3280delinsGATA	XP_005248337.1:p.Asp1093=
XM_005248282.5:c.2617_2620delinsGATA	XP_005248339.3:p.Asp873=
XM_006714468.2:c.3277_3280delinsGATA	XP_006714531.1:p.Asp1093=
XM_017009329.1:c.3277_3280delinsGATA	XP_016864818.1:p.Asp1093=
XM_017009330.2:c.1660_1663delinsGATA	XP_016864819.1:p.Asp554=
XM_017009331.1:c.1651_1654delinsGATA	XP_016864820.1:p.Asp551=
NM_133433.4:c.3277_3280delinsGATA MANE Select	NP_597677.2:p.Asp1093=
NM_015384.5:c.3277_3280delinsGATA	NP_056199.2:p.Asp1093=