Canonical Allele Identifier: CA810296215
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs1310749387

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36995556_36995557del , CM000667.2:g.36995556_36995557del GRCh38
NC_000005.9:g.36995658_36995659del , CM000667.1:g.36995658_36995659del GRCh37
NC_000005.8:g.37031415_37031416del NCBI36
NG_006987.1:g.123674_123675del
NG_006987.2:g.123674_123675del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3122-66_3122-65del MANE Select ENSP00000282516.8:n.3122-66_3122-65del
ENST00000652901.1:c.3122-66_3122-65del ENSP00000499536.1:n.3122-66_3122-65del
ENST00000282516.12:c.3122-66_3122-65del ENSP00000282516.8:n.3122-66_3122-65del
ENST00000448238.2:c.3122-66_3122-65del ENSP00000406266.2:n.3122-66_3122-65del
ENST00000503274.1:n.407_408del
ENST00000504430.5:n.2742-66_2742-65del
ENST00000621733.1:c.1-69022_1-69021del ENSP00000480694.1:n.1-69022_1-69021del
NM_015384.4:c.3122-66_3122-65del NP_056199.2:n.3122-66_3122-65del
NM_133433.3:c.3122-66_3122-65del NP_597677.2:n.3122-66_3122-65del
XM_005248280.2:c.3122-66_3122-65del XP_005248337.1:n.3122-66_3122-65del
XM_005248282.3:c.2378-66_2378-65del XP_005248339.2:n.2378-66_2378-65del
XM_006714467.2:c.3122-66_3122-65del XP_006714530.1:n.3122-66_3122-65del
XM_006714468.1:c.3122-66_3122-65del XP_006714531.1:n.3122-66_3122-65del
XM_011514014.1:c.3122-5261_3122-5260del XP_011512316.1:n.3122-5261_3122-5260del
XM_011514015.1:c.3122-66_3122-65del XP_011512317.1:n.3122-66_3122-65del
XM_005248280.3:c.3122-66_3122-65del XP_005248337.1:n.3122-66_3122-65del
XM_005248282.5:c.2462-66_2462-65del XP_005248339.3:n.2462-66_2462-65del
XM_006714468.2:c.3122-66_3122-65del XP_006714531.1:n.3122-66_3122-65del
XM_017009329.1:c.3122-66_3122-65del XP_016864818.1:n.3122-66_3122-65del
XM_017009330.2:c.1505-66_1505-65del XP_016864819.1:n.1505-66_1505-65del
XM_017009331.1:c.1496-66_1496-65del XP_016864820.1:n.1496-66_1496-65del
NM_133433.4:c.3122-66_3122-65del MANE Select NP_597677.2:n.3122-66_3122-65del
NM_015384.5:c.3122-66_3122-65del NP_056199.2:n.3122-66_3122-65del