Canonical Allele Identifier: CA277017
Gene: NIPBL HGNC NCBI
CPLANE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 211665
ClinVar RCV Id: RCV000192755
dbSNP Id: rs797045787

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37064752_37064753dup , CM000667.2:g.37064752_37064753dup GRCh38
NC_000005.9:g.37064854_37064855dup , CM000667.1:g.37064854_37064855dup GRCh37
NC_000005.8:g.37100611_37100612dup NCBI36
NG_006987.1:g.192870_192871dup
NG_006987.2:g.192870_192871dup

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.8275_8276dup (NIPBL) MANE Select ENSP00000282516.8:p.Val2760TrpfsTer5
ENST00000652901.1:c.*219_*220dup (NIPBL) ENSP00000499536.1:n.*219_*220dup
ENST00000282516.12:c.8275_8276dup (NIPBL) ENSP00000282516.8:p.Val2760TrpfsTer5
ENST00000514335.1:n.2198_2199dup (NIPBL)
ENST00000621733.1:c.175_176dup (NIPBL) ENSP00000480694.1:p.Val60TrpfsTer5
NM_015384.4:c.*729_*730dup (NIPBL) NP_056199.2:n.*729_*730dup
NM_133433.3:c.8275_8276dup (NIPBL) NP_597677.2:p.Val2760TrpfsTer5
XM_005248280.2:c.*219_*220dup (NIPBL) XP_005248337.1:n.*219_*220dup
XM_005248282.3:c.7531_7532dup (NIPBL) XP_005248339.2:p.Val2512TrpfsTer5
XM_006714467.2:c.8128_8129dup (NIPBL) XP_006714530.1:p.Val2711TrpfsTer5
XM_006714468.1:c.8077_8078dup (NIPBL) XP_006714531.1:p.Val2694TrpfsTer5
XM_011514014.1:c.7894_7895dup (NIPBL) XP_011512316.1:p.Val2633TrpfsTer5
XM_005248280.3:c.*219_*220dup (NIPBL) XP_005248337.1:n.*219_*220dup
XM_005248282.5:c.7615_7616dup (NIPBL) XP_005248339.3:p.Val2540TrpfsTer5
XM_006714468.2:c.8077_8078dup (NIPBL) XP_006714531.1:p.Val2694TrpfsTer5
XM_017009329.1:c.*219_*220dup (NIPBL) XP_016864818.1:n.*219_*220dup
XM_017009330.2:c.6658_6659dup (NIPBL) XP_016864819.1:p.Val2221TrpfsTer5
XM_017009331.1:c.6649_6650dup (NIPBL) XP_016864820.1:p.Val2218TrpfsTer5
XR_925644.2:n.11929_11930dup (CPLANE1)
NM_133433.4:c.8275_8276dup (NIPBL) MANE Select NP_597677.2:p.Val2760TrpfsTer5
NM_015384.5:c.*729_*730dup (NIPBL) NP_056199.2:n.*729_*730dup