Canonical Allele Identifier: CA1539582134

Gene: NIPBL

Linked Data

• dbSNP Id: rs1744682329

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985591_36985592dup , CM000667.2:g.36985591_36985592dup	GRCh38
NC_000005.9:g.36985693_36985694dup , CM000667.1:g.36985693_36985694dup	GRCh37
NC_000005.8:g.37021450_37021451dup	NCBI36
NG_006987.1:g.113709_113710dup
NG_006987.2:g.113709_113710dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2411_2412dup MANE Select	ENSP00000282516.8:p.Pro805AspfsTer11
ENST00000652901.1:c.2411_2412dup	ENSP00000499536.1:p.Pro805AspfsTer11
ENST00000282516.12:c.2411_2412dup	ENSP00000282516.8:p.Pro805AspfsTer11
ENST00000448238.2:c.2411_2412dup	ENSP00000406266.2:p.Pro805AspfsTer11
ENST00000504430.5:n.2031_2032dup
ENST00000621733.1:c.1-78987_1-78986dup	ENSP00000480694.1:n.1-78987_1-78986dup
NM_015384.4:c.2411_2412dup	NP_056199.2:p.Pro805AspfsTer11
NM_133433.3:c.2411_2412dup	NP_597677.2:p.Pro805AspfsTer11
XM_005248280.2:c.2411_2412dup	XP_005248337.1:p.Pro805AspfsTer11
XM_005248282.3:c.1667_1668dup	XP_005248339.2:p.Pro557AspfsTer11
XM_006714467.2:c.2411_2412dup	XP_006714530.1:p.Pro805AspfsTer11
XM_006714468.1:c.2411_2412dup	XP_006714531.1:p.Pro805AspfsTer11
XM_011514014.1:c.2411_2412dup	XP_011512316.1:p.Pro805AspfsTer11
XM_011514015.1:c.2411_2412dup	XP_011512317.1:p.Pro805AspfsTer11
XM_005248280.3:c.2411_2412dup	XP_005248337.1:p.Pro805AspfsTer11
XM_005248282.5:c.1751_1752dup	XP_005248339.3:p.Pro585AspfsTer11
XM_006714468.2:c.2411_2412dup	XP_006714531.1:p.Pro805AspfsTer11
XM_017009329.1:c.2411_2412dup	XP_016864818.1:p.Pro805AspfsTer11
XM_017009330.2:c.794_795dup	XP_016864819.1:p.Pro266AspfsTer11
XM_017009331.1:c.1495+9189_1495+9190dup	XP_016864820.1:n.1495+9189_1495+9190dup
NM_133433.4:c.2411_2412dup MANE Select	NP_597677.2:p.Pro805AspfsTer11
NM_015384.5:c.2411_2412dup	NP_056199.2:p.Pro805AspfsTer11