Canonical Allele Identifier: CA2516196470

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016127_37016128insA , CM000667.2:g.37016127_37016128insA	GRCh38
NC_000005.9:g.37016229_37016230insA , CM000667.1:g.37016229_37016230insA	GRCh37
NC_000005.8:g.37051986_37051987insA	NCBI36
NG_006987.1:g.144245_144246insA
NG_006987.2:g.144245_144246insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4733_4734insA MANE Select	ENSP00000282516.8:p.Trp1578Ter
ENST00000652901.1:c.4733_4734insA	ENSP00000499536.1:p.Trp1578Ter
ENST00000282516.12:c.4733_4734insA	ENSP00000282516.8:p.Trp1578Ter
ENST00000448238.2:c.4733_4734insA	ENSP00000406266.2:p.Trp1578Ter
ENST00000621733.1:c.1-48451_1-48450insA	ENSP00000480694.1:n.1-48451_1-48450insA
NM_015384.4:c.4733_4734insA	NP_056199.2:p.Trp1578Ter
NM_133433.3:c.4733_4734insA	NP_597677.2:p.Trp1578Ter
XM_005248280.2:c.4733_4734insA	XP_005248337.1:p.Trp1578Ter
XM_005248282.3:c.3989_3990insA	XP_005248339.2:p.Trp1330Ter
XM_006714467.2:c.4733_4734insA	XP_006714530.1:p.Trp1578Ter
XM_006714468.1:c.4535_4536insA	XP_006714531.1:p.Trp1512Ter
XM_011514014.1:c.4352_4353insA	XP_011512316.1:p.Trp1451Ter
XM_011514015.1:c.4733_4734insA	XP_011512317.1:p.Trp1578Ter
XM_005248280.3:c.4733_4734insA	XP_005248337.1:p.Trp1578Ter
XM_005248282.5:c.4073_4074insA	XP_005248339.3:p.Trp1358Ter
XM_006714468.2:c.4535_4536insA	XP_006714531.1:p.Trp1512Ter
XM_017009329.1:c.4733_4734insA	XP_016864818.1:p.Trp1578Ter
XM_017009330.2:c.3116_3117insA	XP_016864819.1:p.Trp1039Ter
XM_017009331.1:c.3107_3108insA	XP_016864820.1:p.Trp1036Ter
NM_133433.4:c.4733_4734insA MANE Select	NP_597677.2:p.Trp1578Ter
NM_015384.5:c.4733_4734insA	NP_056199.2:p.Trp1578Ter