Canonical Allele Identifier: CA559021865
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs1395372484

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36995400_36995401del , CM000667.2:g.36995400_36995401del GRCh38
NC_000005.9:g.36995502_36995503del , CM000667.1:g.36995502_36995503del GRCh37
NC_000005.8:g.37031259_37031260del NCBI36
NG_006987.1:g.123518_123519del
NG_006987.2:g.123518_123519del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.3122-222_3122-221del MANE Select ENSP00000282516.8:n.3122-222_3122-221del
ENST00000652901.1:c.3122-222_3122-221del ENSP00000499536.1:n.3122-222_3122-221del
ENST00000282516.12:c.3122-222_3122-221del ENSP00000282516.8:n.3122-222_3122-221del
ENST00000448238.2:c.3122-222_3122-221del ENSP00000406266.2:n.3122-222_3122-221del
ENST00000503274.1:n.251_252del
ENST00000504430.5:n.2742-222_2742-221del
ENST00000621733.1:c.1-69178_1-69177del ENSP00000480694.1:n.1-69178_1-69177del
NM_015384.4:c.3122-222_3122-221del NP_056199.2:n.3122-222_3122-221del
NM_133433.3:c.3122-222_3122-221del NP_597677.2:n.3122-222_3122-221del
XM_005248280.2:c.3122-222_3122-221del XP_005248337.1:n.3122-222_3122-221del
XM_005248282.3:c.2378-222_2378-221del XP_005248339.2:n.2378-222_2378-221del
XM_006714467.2:c.3122-222_3122-221del XP_006714530.1:n.3122-222_3122-221del
XM_006714468.1:c.3122-222_3122-221del XP_006714531.1:n.3122-222_3122-221del
XM_011514014.1:c.3122-5417_3122-5416del XP_011512316.1:n.3122-5417_3122-5416del
XM_011514015.1:c.3122-222_3122-221del XP_011512317.1:n.3122-222_3122-221del
XM_005248280.3:c.3122-222_3122-221del XP_005248337.1:n.3122-222_3122-221del
XM_005248282.5:c.2462-222_2462-221del XP_005248339.3:n.2462-222_2462-221del
XM_006714468.2:c.3122-222_3122-221del XP_006714531.1:n.3122-222_3122-221del
XM_017009329.1:c.3122-222_3122-221del XP_016864818.1:n.3122-222_3122-221del
XM_017009330.2:c.1505-222_1505-221del XP_016864819.1:n.1505-222_1505-221del
XM_017009331.1:c.1496-222_1496-221del XP_016864820.1:n.1496-222_1496-221del
NM_133433.4:c.3122-222_3122-221del MANE Select NP_597677.2:n.3122-222_3122-221del
NM_015384.5:c.3122-222_3122-221del NP_056199.2:n.3122-222_3122-221del