Canonical Allele Identifier: CA1539599973
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36995606_36995609delinsTACC , CM000667.2:g.36995606_36995609delinsTACC GRCh38
NC_000005.9:g.36995708_36995711delinsTACC , CM000667.1:g.36995708_36995711delinsTACC GRCh37
NC_000005.8:g.37031465_37031468delinsTACC NCBI36
NG_006987.1:g.123724_123727delinsTACC
NG_006987.2:g.123724_123727delinsTACC

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3122-16_3122-13delinsTACC MANE Select ENSP00000282516.8:n.3122-16_3122-13delins...
ENST00000652901.1:c.3122-16_3122-13delinsTACC ENSP00000499536.1:n.3122-16_3122-13delins...
ENST00000282516.12:c.3122-16_3122-13delinsTACC ENSP00000282516.8:n.3122-16_3122-13delins...
ENST00000448238.2:c.3122-16_3122-13delinsTACC ENSP00000406266.2:n.3122-16_3122-13delins...
ENST00000503274.1:n.457_460delinsTACC
ENST00000504430.5:n.2742-16_2742-13delinsTACC
ENST00000621733.1:c.1-68972_1-68969delinsTACC ENSP00000480694.1:n.1-68972_1-68969delins...
NM_015384.4:c.3122-16_3122-13delinsTACC NP_056199.2:n.3122-16_3122-13delinsTACC
NM_133433.3:c.3122-16_3122-13delinsTACC NP_597677.2:n.3122-16_3122-13delinsTACC
XM_005248280.2:c.3122-16_3122-13delinsTACC XP_005248337.1:n.3122-16_3122-13delinsTAC...
XM_005248282.3:c.2378-16_2378-13delinsTACC XP_005248339.2:n.2378-16_2378-13delinsTAC...
XM_006714467.2:c.3122-16_3122-13delinsTACC XP_006714530.1:n.3122-16_3122-13delinsTAC...
XM_006714468.1:c.3122-16_3122-13delinsTACC XP_006714531.1:n.3122-16_3122-13delinsTAC...
XM_011514014.1:c.3122-5211_3122-5208delinsTACC XP_011512316.1:n.3122-5211_3122-5208delin...
XM_011514015.1:c.3122-16_3122-13delinsTACC XP_011512317.1:n.3122-16_3122-13delinsTAC...
XM_005248280.3:c.3122-16_3122-13delinsTACC XP_005248337.1:n.3122-16_3122-13delinsTAC...
XM_005248282.5:c.2462-16_2462-13delinsTACC XP_005248339.3:n.2462-16_2462-13delinsTAC...
XM_006714468.2:c.3122-16_3122-13delinsTACC XP_006714531.1:n.3122-16_3122-13delinsTAC...
XM_017009329.1:c.3122-16_3122-13delinsTACC XP_016864818.1:n.3122-16_3122-13delinsTAC...
XM_017009330.2:c.1505-16_1505-13delinsTACC XP_016864819.1:n.1505-16_1505-13delinsTAC...
XM_017009331.1:c.1496-16_1496-13delinsTACC XP_016864820.1:n.1496-16_1496-13delinsTAC...
NM_133433.4:c.3122-16_3122-13delinsTACC MANE Select NP_597677.2:n.3122-16_3122-13delinsTACC
NM_015384.5:c.3122-16_3122-13delinsTACC NP_056199.2:n.3122-16_3122-13delinsTACC