Canonical Allele Identifier: CA16043408
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 374171
dbSNP Id: rs1057518944

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36984991_36984992del , CM000667.2:g.36984991_36984992del GRCh38
NC_000005.9:g.36985093_36985094del , CM000667.1:g.36985093_36985094del GRCh37
NC_000005.8:g.37020850_37020851del NCBI36
NG_006987.1:g.113109_113110del
NG_006987.2:g.113109_113110del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.1811_1812del MANE Select ENSP00000282516.8:p.Ser604Ter
ENST00000652901.1:c.1811_1812del ENSP00000499536.1:p.Ser604Ter
ENST00000282516.12:c.1811_1812del ENSP00000282516.8:p.Ser604Ter
ENST00000448238.2:c.1811_1812del ENSP00000406266.2:p.Ser604Ter
ENST00000504430.5:n.1431_1432del
ENST00000621733.1:c.1-79587_1-79586del ENSP00000480694.1:n.1-79587_1-79586del
NM_015384.4:c.1811_1812del NP_056199.2:p.Ser604Ter
NM_133433.3:c.1811_1812del NP_597677.2:p.Ser604Ter
XM_005248280.2:c.1811_1812del XP_005248337.1:p.Ser604Ter
XM_005248282.3:c.1067_1068del XP_005248339.2:p.Ser356Ter
XM_006714467.2:c.1811_1812del XP_006714530.1:p.Ser604Ter
XM_006714468.1:c.1811_1812del XP_006714531.1:p.Ser604Ter
XM_011514014.1:c.1811_1812del XP_011512316.1:p.Ser604Ter
XM_011514015.1:c.1811_1812del XP_011512317.1:p.Ser604Ter
XM_005248280.3:c.1811_1812del XP_005248337.1:p.Ser604Ter
XM_005248282.5:c.1151_1152del XP_005248339.3:p.Ser384Ter
XM_006714468.2:c.1811_1812del XP_006714531.1:p.Ser604Ter
XM_017009329.1:c.1811_1812del XP_016864818.1:p.Ser604Ter
XM_017009330.2:c.194_195del XP_016864819.1:p.Ser65Ter
XM_017009331.1:c.1495+8589_1495+8590del XP_016864820.1:n.1495+8589_1495+8590del
NM_133433.4:c.1811_1812del MANE Select NP_597677.2:p.Ser604Ter
NM_015384.5:c.1811_1812del NP_056199.2:p.Ser604Ter