Canonical Allele Identifier: CA1539571488
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36953762_36953763delinsTA , CM000667.2:g.36953762_36953763delinsTA GRCh38
NC_000005.9:g.36953864_36953865delinsTA , CM000667.1:g.36953864_36953865delinsTA GRCh37
NC_000005.8:g.36989621_36989622delinsTA NCBI36
NG_006987.1:g.81880_81881delinsTA
NG_006987.2:g.81880_81881delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.64+2_64+3delinsTA MANE Select ENSP00000282516.8:n.64+2_64+3delinsTA
ENST00000652901.1:c.64+2_64+3delinsTA ENSP00000499536.1:n.64+2_64+3delinsTA
ENST00000282516.12:c.64+2_64+3delinsTA ENSP00000282516.8:n.64+2_64+3delinsTA
ENST00000448238.2:c.64+2_64+3delinsTA ENSP00000406266.2:n.64+2_64+3delinsTA
ENST00000621733.1:c.-1+76740_-1+76741delinsTA ENSP00000480694.1:n.-1+76740_-1+76741delinsTA
NM_015384.4:c.64+2_64+3delinsTA NP_056199.2:n.64+2_64+3delinsTA
NM_133433.3:c.64+2_64+3delinsTA NP_597677.2:n.64+2_64+3delinsTA
XM_005248280.2:c.64+2_64+3delinsTA XP_005248337.1:n.64+2_64+3delinsTA
XM_006714467.2:c.64+2_64+3delinsTA XP_006714530.1:n.64+2_64+3delinsTA
XM_006714468.1:c.64+2_64+3delinsTA XP_006714531.1:n.64+2_64+3delinsTA
XM_011514014.1:c.64+2_64+3delinsTA XP_011512316.1:n.64+2_64+3delinsTA
XM_011514015.1:c.64+2_64+3delinsTA XP_011512317.1:n.64+2_64+3delinsTA
XM_005248280.3:c.64+2_64+3delinsTA XP_005248337.1:n.64+2_64+3delinsTA
XM_006714468.2:c.64+2_64+3delinsTA XP_006714531.1:n.64+2_64+3delinsTA
XM_017009329.1:c.64+2_64+3delinsTA XP_016864818.1:n.64+2_64+3delinsTA
XM_017009331.1:c.64+2_64+3delinsTA XP_016864820.1:n.64+2_64+3delinsTA
NM_133433.4:c.64+2_64+3delinsTA MANE Select NP_597677.2:n.64+2_64+3delinsTA
NM_015384.5:c.64+2_64+3delinsTA NP_056199.2:n.64+2_64+3delinsTA