Canonical Allele Identifier: CA2673574307
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36995613_36995614del , CM000667.2:g.36995613_36995614del GRCh38
NC_000005.9:g.36995715_36995716del , CM000667.1:g.36995715_36995716del GRCh37
NC_000005.8:g.37031472_37031473del NCBI36
NG_006987.1:g.123731_123732del
NG_006987.2:g.123731_123732del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.3122-9_3122-8del MANE Select ENSP00000282516.8:n.3122-9_3122-8del
ENST00000652901.1:c.3122-9_3122-8del ENSP00000499536.1:n.3122-9_3122-8del
ENST00000282516.12:c.3122-9_3122-8del ENSP00000282516.8:n.3122-9_3122-8del
ENST00000448238.2:c.3122-9_3122-8del ENSP00000406266.2:n.3122-9_3122-8del
ENST00000503274.1:n.464_465del
ENST00000504430.5:n.2742-9_2742-8del
ENST00000621733.1:c.1-68965_1-68964del ENSP00000480694.1:n.1-68965_1-68964del
NM_015384.4:c.3122-9_3122-8del NP_056199.2:n.3122-9_3122-8del
NM_133433.3:c.3122-9_3122-8del NP_597677.2:n.3122-9_3122-8del
XM_005248280.2:c.3122-9_3122-8del XP_005248337.1:n.3122-9_3122-8del
XM_005248282.3:c.2378-9_2378-8del XP_005248339.2:n.2378-9_2378-8del
XM_006714467.2:c.3122-9_3122-8del XP_006714530.1:n.3122-9_3122-8del
XM_006714468.1:c.3122-9_3122-8del XP_006714531.1:n.3122-9_3122-8del
XM_011514014.1:c.3122-5204_3122-5203del XP_011512316.1:n.3122-5204_3122-5203del
XM_011514015.1:c.3122-9_3122-8del XP_011512317.1:n.3122-9_3122-8del
XM_005248280.3:c.3122-9_3122-8del XP_005248337.1:n.3122-9_3122-8del
XM_005248282.5:c.2462-9_2462-8del XP_005248339.3:n.2462-9_2462-8del
XM_006714468.2:c.3122-9_3122-8del XP_006714531.1:n.3122-9_3122-8del
XM_017009329.1:c.3122-9_3122-8del XP_016864818.1:n.3122-9_3122-8del
XM_017009330.2:c.1505-9_1505-8del XP_016864819.1:n.1505-9_1505-8del
XM_017009331.1:c.1496-9_1496-8del XP_016864820.1:n.1496-9_1496-8del
NM_133433.4:c.3122-9_3122-8del MANE Select NP_597677.2:n.3122-9_3122-8del
NM_015384.5:c.3122-9_3122-8del NP_056199.2:n.3122-9_3122-8del