Canonical Allele Identifier: CA1539580923

Gene: NIPBL

Linked Data

• dbSNP Id: rs1744594758

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985077_36985078insTTTAAGACTT , CM000667.2:g.36985077_36985078insTTTAAGACTT	GRCh38
NC_000005.9:g.36985179_36985180insTTTAAGACTT , CM000667.1:g.36985179_36985180insTTTAAGACTT	GRCh37
NC_000005.8:g.37020936_37020937insTTTAAGACTT	NCBI36
NG_006987.1:g.113195_113196insTTTAAGACTT
NG_006987.2:g.113195_113196insTTTAAGACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1897_1898insTTTAAGACTT MANE Select	ENSP00000282516.8:p.Thr633IlefsTer2
ENST00000652901.1:c.1897_1898insTTTAAGACTT	ENSP00000499536.1:p.Thr633IlefsTer2
ENST00000282516.12:c.1897_1898insTTTAAGACTT	ENSP00000282516.8:p.Thr633IlefsTer2
ENST00000448238.2:c.1897_1898insTTTAAGACTT	ENSP00000406266.2:p.Thr633IlefsTer2
ENST00000504430.5:n.1517_1518insTTTAAGACTT
ENST00000621733.1:c.1-79501_1-79500insTTTAAGACTT	ENSP00000480694.1:n.1-79501_1-79500insTTTAAGACTT
NM_015384.4:c.1897_1898insTTTAAGACTT	NP_056199.2:p.Thr633IlefsTer2
NM_133433.3:c.1897_1898insTTTAAGACTT	NP_597677.2:p.Thr633IlefsTer2
XM_005248280.2:c.1897_1898insTTTAAGACTT	XP_005248337.1:p.Thr633IlefsTer2
XM_005248282.3:c.1153_1154insTTTAAGACTT	XP_005248339.2:p.Thr385IlefsTer2
XM_006714467.2:c.1897_1898insTTTAAGACTT	XP_006714530.1:p.Thr633IlefsTer2
XM_006714468.1:c.1897_1898insTTTAAGACTT	XP_006714531.1:p.Thr633IlefsTer2
XM_011514014.1:c.1897_1898insTTTAAGACTT	XP_011512316.1:p.Thr633IlefsTer2
XM_011514015.1:c.1897_1898insTTTAAGACTT	XP_011512317.1:p.Thr633IlefsTer2
XM_005248280.3:c.1897_1898insTTTAAGACTT	XP_005248337.1:p.Thr633IlefsTer2
XM_005248282.5:c.1237_1238insTTTAAGACTT	XP_005248339.3:p.Thr413IlefsTer2
XM_006714468.2:c.1897_1898insTTTAAGACTT	XP_006714531.1:p.Thr633IlefsTer2
XM_017009329.1:c.1897_1898insTTTAAGACTT	XP_016864818.1:p.Thr633IlefsTer2
XM_017009330.2:c.280_281insTTTAAGACTT	XP_016864819.1:p.Thr94IlefsTer2
XM_017009331.1:c.1495+8675_1495+8676insTTTAAGACTT	XP_016864820.1:n.1495+8675_1495+8676insTTTAAGACTT
NM_133433.4:c.1897_1898insTTTAAGACTT MANE Select	NP_597677.2:p.Thr633IlefsTer2
NM_015384.5:c.1897_1898insTTTAAGACTT	NP_056199.2:p.Thr633IlefsTer2