Canonical Allele Identifier: CA2765908588
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876832_36876852del , CM000667.2:g.36876832_36876852del GRCh38
NC_000005.9:g.36876934_36876954del , CM000667.1:g.36876934_36876954del GRCh37
NC_000005.8:g.36912691_36912711del NCBI36
NG_006987.1:g.4950_4970del
NG_006987.2:g.4950_4970del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.-426_-406del MANE Select ENSP00000282516.8:n.-426_-406del
ENST00000282516.12:c.-426_-406del ENSP00000282516.8:n.-426_-406del
ENST00000448238.2:c.-426_-406del ENSP00000406266.2:n.-426_-406del
NM_015384.4:c.-426_-406del NP_056199.2:n.-426_-406del
NM_133433.3:c.-426_-406del NP_597677.2:n.-426_-406del
XM_005248280.2:c.-426_-406del XP_005248337.1:n.-426_-406del
XM_006714467.2:c.-426_-406del XP_006714530.1:n.-426_-406del
XM_006714468.1:c.-426_-406del XP_006714531.1:n.-426_-406del
XM_011514014.1:c.-426_-406del XP_011512316.1:n.-426_-406del
XM_011514015.1:c.-426_-406del XP_011512317.1:n.-426_-406del
XM_005248280.3:c.-426_-406del XP_005248337.1:n.-426_-406del
XM_006714468.2:c.-426_-406del XP_006714531.1:n.-426_-406del
XM_017009329.1:c.-426_-406del XP_016864818.1:n.-426_-406del
XM_017009331.1:c.-426_-406del XP_016864820.1:n.-426_-406del
NM_133433.4:c.-426_-406del MANE Select NP_597677.2:n.-426_-406del
NM_015384.5:c.-426_-406del NP_056199.2:n.-426_-406del