Canonical Allele Identifier: CA1539592907

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995763_36995764delinsTC , CM000667.2:g.36995763_36995764delinsTC	GRCh38
NC_000005.9:g.36995865_36995866delinsTC , CM000667.1:g.36995865_36995866delinsTC	GRCh37
NC_000005.8:g.37031622_37031623delinsTC	NCBI36
NG_006987.1:g.123881_123882delinsTC
NG_006987.2:g.123881_123882delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3263_3264delinsTC MANE Select	ENSP00000282516.8:p.Ile1088=
ENST00000652901.1:c.3263_3264delinsTC	ENSP00000499536.1:p.Ile1088=
ENST00000282516.12:c.3263_3264delinsTC	ENSP00000282516.8:p.Ile1088=
ENST00000448238.2:c.3263_3264delinsTC	ENSP00000406266.2:p.Ile1088=
ENST00000503274.1:n.614_615delinsTC
ENST00000504430.5:n.2883_2884delinsTC
ENST00000509429.1:n.14_15delinsTC
ENST00000621733.1:c.1-68815_1-68814delinsTC	ENSP00000480694.1:n.1-68815_1-68814delins...
NM_015384.4:c.3263_3264delinsTC	NP_056199.2:p.Ile1088=
NM_133433.3:c.3263_3264delinsTC	NP_597677.2:p.Ile1088=
XM_005248280.2:c.3263_3264delinsTC	XP_005248337.1:p.Ile1088=
XM_005248282.3:c.2519_2520delinsTC	XP_005248339.2:p.Ile840=
XM_006714467.2:c.3263_3264delinsTC	XP_006714530.1:p.Ile1088=
XM_006714468.1:c.3263_3264delinsTC	XP_006714531.1:p.Ile1088=
XM_011514014.1:c.3122-5054_3122-5053delinsTC	XP_011512316.1:n.3122-5054_3122-5053delin...
XM_011514015.1:c.3263_3264delinsTC	XP_011512317.1:p.Ile1088=
XM_005248280.3:c.3263_3264delinsTC	XP_005248337.1:p.Ile1088=
XM_005248282.5:c.2603_2604delinsTC	XP_005248339.3:p.Ile868=
XM_006714468.2:c.3263_3264delinsTC	XP_006714531.1:p.Ile1088=
XM_017009329.1:c.3263_3264delinsTC	XP_016864818.1:p.Ile1088=
XM_017009330.2:c.1646_1647delinsTC	XP_016864819.1:p.Ile549=
XM_017009331.1:c.1637_1638delinsTC	XP_016864820.1:p.Ile546=
NM_133433.4:c.3263_3264delinsTC MANE Select	NP_597677.2:p.Ile1088=
NM_015384.5:c.3263_3264delinsTC	NP_056199.2:p.Ile1088=