Canonical Allele Identifier: CA1539615171
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37015780_37015781delinsAT , CM000667.2:g.37015780_37015781delinsAT GRCh38
NC_000005.9:g.37015882_37015883delinsAT , CM000667.1:g.37015882_37015883delinsAT GRCh37
NC_000005.8:g.37051639_37051640delinsAT NCBI36
NG_006987.1:g.143898_143899delinsAT
NG_006987.2:g.143898_143899delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.4644-258_4644-257delinsAT MANE Select ENSP00000282516.8:n.4644-258_4644-257delinsAT
ENST00000652901.1:c.4644-258_4644-257delinsAT ENSP00000499536.1:n.4644-258_4644-257delinsAT
ENST00000282516.12:c.4644-258_4644-257delinsAT ENSP00000282516.8:n.4644-258_4644-257delinsAT
ENST00000448238.2:c.4644-258_4644-257delinsAT ENSP00000406266.2:n.4644-258_4644-257delinsAT
ENST00000621733.1:c.1-48798_1-48797delinsAT ENSP00000480694.1:n.1-48798_1-48797delinsAT
NM_015384.4:c.4644-258_4644-257delinsAT NP_056199.2:n.4644-258_4644-257delinsAT
NM_133433.3:c.4644-258_4644-257delinsAT NP_597677.2:n.4644-258_4644-257delinsAT
XM_005248280.2:c.4644-258_4644-257delinsAT XP_005248337.1:n.4644-258_4644-257delinsAT
XM_005248282.3:c.3900-258_3900-257delinsAT XP_005248339.2:n.3900-258_3900-257delinsAT
XM_006714467.2:c.4644-258_4644-257delinsAT XP_006714530.1:n.4644-258_4644-257delinsAT
XM_006714468.1:c.4446-258_4446-257delinsAT XP_006714531.1:n.4446-258_4446-257delinsAT
XM_011514014.1:c.4263-258_4263-257delinsAT XP_011512316.1:n.4263-258_4263-257delinsAT
XM_011514015.1:c.4644-258_4644-257delinsAT XP_011512317.1:n.4644-258_4644-257delinsAT
XM_005248280.3:c.4644-258_4644-257delinsAT XP_005248337.1:n.4644-258_4644-257delinsAT
XM_005248282.5:c.3984-258_3984-257delinsAT XP_005248339.3:n.3984-258_3984-257delinsAT
XM_006714468.2:c.4446-258_4446-257delinsAT XP_006714531.1:n.4446-258_4446-257delinsAT
XM_017009329.1:c.4644-258_4644-257delinsAT XP_016864818.1:n.4644-258_4644-257delinsAT
XM_017009330.2:c.3027-258_3027-257delinsAT XP_016864819.1:n.3027-258_3027-257delinsAT
XM_017009331.1:c.3018-258_3018-257delinsAT XP_016864820.1:n.3018-258_3018-257delinsAT
NM_133433.4:c.4644-258_4644-257delinsAT MANE Select NP_597677.2:n.4644-258_4644-257delinsAT
NM_015384.5:c.4644-258_4644-257delinsAT NP_056199.2:n.4644-258_4644-257delinsAT