Canonical Allele Identifier: CA271977
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159037
ClinVar RCV Id: RCV000146522
dbSNP Id: rs587783888

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36984694_36984697del , CM000667.2:g.36984694_36984697del GRCh38
NC_000005.9:g.36984796_36984799del , CM000667.1:g.36984796_36984799del GRCh37
NC_000005.8:g.37020553_37020556del NCBI36
NG_006987.1:g.112812_112815del
NG_006987.2:g.112812_112815del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.1514_1517del MANE Select ENSP00000282516.8:p.Arg505AsnfsTer?
ENST00000652901.1:c.1514_1517del ENSP00000499536.1:p.Arg505AsnfsTer?
ENST00000282516.12:c.1514_1517del ENSP00000282516.8:p.Arg505AsnfsTer?
ENST00000448238.2:c.1514_1517del ENSP00000406266.2:p.Arg505AsnfsTer?
ENST00000504430.5:n.1134_1137del
ENST00000621733.1:c.1-79884_1-79881del ENSP00000480694.1:n.1-79884_1-79881del
NM_015384.4:c.1514_1517del NP_056199.2:p.Arg505AsnfsTer?
NM_133433.3:c.1514_1517del NP_597677.2:p.Arg505AsnfsTer?
XM_005248280.2:c.1514_1517del XP_005248337.1:p.Arg505AsnfsTer?
XM_005248282.3:c.770_773del XP_005248339.2:p.Arg257AsnfsTer?
XM_006714467.2:c.1514_1517del XP_006714530.1:p.Arg505AsnfsTer?
XM_006714468.1:c.1514_1517del XP_006714531.1:p.Arg505AsnfsTer?
XM_011514014.1:c.1514_1517del XP_011512316.1:p.Arg505AsnfsTer?
XM_011514015.1:c.1514_1517del XP_011512317.1:p.Arg505AsnfsTer?
XM_005248280.3:c.1514_1517del XP_005248337.1:p.Arg505AsnfsTer?
XM_005248282.5:c.854_857del XP_005248339.3:p.Arg285AsnfsTer?
XM_006714468.2:c.1514_1517del XP_006714531.1:p.Arg505AsnfsTer?
XM_017009329.1:c.1514_1517del XP_016864818.1:p.Arg505AsnfsTer?
XM_017009330.2:c.-104_-101del XP_016864819.1:n.-104_-101del
XM_017009331.1:c.1495+8292_1495+8295del XP_016864820.1:n.1495+8292_1495+8295del
NM_133433.4:c.1514_1517del MANE Select NP_597677.2:p.Arg505AsnfsTer?
NM_015384.5:c.1514_1517del NP_056199.2:p.Arg505AsnfsTer?