Canonical Allele Identifier: CA2540653808

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016120_37016121insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC , CM000667.2:g.37016120_37016121insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	GRCh38
NC_000005.9:g.37016222_37016223insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC , CM000667.1:g.37016222_37016223insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	GRCh37
NC_000005.8:g.37051979_37051980insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	NCBI36
NG_006987.1:g.144238_144239insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC
NG_006987.2:g.144238_144239insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4726_4727insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC MANE Select	ENSP00000282516.8:p.Pro1576HisfsTer2
ENST00000652901.1:c.4726_4727insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	ENSP00000499536.1:p.Pro1576HisfsTer2
ENST00000282516.12:c.4726_4727insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	ENSP00000282516.8:p.Pro1576HisfsTer2
ENST00000448238.2:c.4726_4727insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	ENSP00000406266.2:p.Pro1576HisfsTer2
ENST00000621733.1:c.1-48458_1-48457insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	ENSP00000480694.1:n.1-48458_1-48457insATTAAGATAATACAGCAATTCAA...
NM_015384.4:c.4726_4727insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	NP_056199.2:p.Pro1576HisfsTer2
NM_133433.3:c.4726_4727insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	NP_597677.2:p.Pro1576HisfsTer2
XM_005248280.2:c.4726_4727insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	XP_005248337.1:p.Pro1576HisfsTer2
XM_005248282.3:c.3982_3983insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	XP_005248339.2:p.Pro1328HisfsTer2
XM_006714467.2:c.4726_4727insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	XP_006714530.1:p.Pro1576HisfsTer2
XM_006714468.1:c.4528_4529insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	XP_006714531.1:p.Pro1510HisfsTer2
XM_011514014.1:c.4345_4346insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	XP_011512316.1:p.Pro1449HisfsTer2
XM_011514015.1:c.4726_4727insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	XP_011512317.1:p.Pro1576HisfsTer2
XM_005248280.3:c.4726_4727insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	XP_005248337.1:p.Pro1576HisfsTer2
XM_005248282.5:c.4066_4067insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	XP_005248339.3:p.Pro1356HisfsTer2
XM_006714468.2:c.4528_4529insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	XP_006714531.1:p.Pro1510HisfsTer2
XM_017009329.1:c.4726_4727insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	XP_016864818.1:p.Pro1576HisfsTer2
XM_017009330.2:c.3109_3110insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	XP_016864819.1:p.Pro1037HisfsTer2
XM_017009331.1:c.3100_3101insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	XP_016864820.1:p.Pro1034HisfsTer2
NM_133433.4:c.4726_4727insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC MANE Select	NP_597677.2:p.Pro1576HisfsTer2
NM_015384.5:c.4726_4727insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC	NP_056199.2:p.Pro1576HisfsTer2