Canonical Allele Identifier: CA2695204319

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985083_36985084insA , CM000667.2:g.36985083_36985084insA	GRCh38
NC_000005.9:g.36985185_36985186insA , CM000667.1:g.36985185_36985186insA	GRCh37
NC_000005.8:g.37020942_37020943insA	NCBI36
NG_006987.1:g.113201_113202insA
NG_006987.2:g.113201_113202insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1903_1904insA MANE Select	ENSP00000282516.8:p.Ser635TyrfsTer3
ENST00000652901.1:c.1903_1904insA	ENSP00000499536.1:p.Ser635TyrfsTer3
ENST00000282516.12:c.1903_1904insA	ENSP00000282516.8:p.Ser635TyrfsTer3
ENST00000448238.2:c.1903_1904insA	ENSP00000406266.2:p.Ser635TyrfsTer3
ENST00000504430.5:n.1523_1524insA
ENST00000621733.1:c.1-79495_1-79494insA	ENSP00000480694.1:n.1-79495_1-79494insA
NM_015384.4:c.1903_1904insA	NP_056199.2:p.Ser635TyrfsTer3
NM_133433.3:c.1903_1904insA	NP_597677.2:p.Ser635TyrfsTer3
XM_005248280.2:c.1903_1904insA	XP_005248337.1:p.Ser635TyrfsTer3
XM_005248282.3:c.1159_1160insA	XP_005248339.2:p.Ser387TyrfsTer3
XM_006714467.2:c.1903_1904insA	XP_006714530.1:p.Ser635TyrfsTer3
XM_006714468.1:c.1903_1904insA	XP_006714531.1:p.Ser635TyrfsTer3
XM_011514014.1:c.1903_1904insA	XP_011512316.1:p.Ser635TyrfsTer3
XM_011514015.1:c.1903_1904insA	XP_011512317.1:p.Ser635TyrfsTer3
XM_005248280.3:c.1903_1904insA	XP_005248337.1:p.Ser635TyrfsTer3
XM_005248282.5:c.1243_1244insA	XP_005248339.3:p.Ser415TyrfsTer3
XM_006714468.2:c.1903_1904insA	XP_006714531.1:p.Ser635TyrfsTer3
XM_017009329.1:c.1903_1904insA	XP_016864818.1:p.Ser635TyrfsTer3
XM_017009330.2:c.286_287insA	XP_016864819.1:p.Ser96TyrfsTer3
XM_017009331.1:c.1495+8681_1495+8682insA	XP_016864820.1:n.1495+8681_1495+8682insA
NM_133433.4:c.1903_1904insA MANE Select	NP_597677.2:p.Ser635TyrfsTer3
NM_015384.5:c.1903_1904insA	NP_056199.2:p.Ser635TyrfsTer3