Canonical Allele Identifier: CA16618202
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 420642
ClinVar RCV Id: RCV000482665
dbSNP Id: rs1064794606

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37026216_37026217delinsAA , CM000667.2:g.37026216_37026217delinsAA GRCh38
NC_000005.9:g.37026318_37026319delinsAA , CM000667.1:g.37026318_37026319delinsAA GRCh37
NC_000005.8:g.37062075_37062076delinsAA NCBI36
NG_006987.1:g.154334_154335delinsAA
NG_006987.2:g.154334_154335delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.5710-13_5710-12delinsAA MANE Select ENSP00000282516.8:n.5710-13_5710-12delins...
ENST00000652901.1:c.5710-13_5710-12delinsAA ENSP00000499536.1:n.5710-13_5710-12delins...
ENST00000282516.12:c.5710-13_5710-12delinsAA ENSP00000282516.8:n.5710-13_5710-12delins...
ENST00000448238.2:c.5710-13_5710-12delinsAA ENSP00000406266.2:n.5710-13_5710-12delins...
ENST00000621733.1:c.1-38362_1-38361delinsAA ENSP00000480694.1:n.1-38362_1-38361delins...
NM_015384.4:c.5710-13_5710-12delinsAA NP_056199.2:n.5710-13_5710-12delinsAA
NM_133433.3:c.5710-13_5710-12delinsAA NP_597677.2:n.5710-13_5710-12delinsAA
XM_005248280.2:c.5710-13_5710-12delinsAA XP_005248337.1:n.5710-13_5710-12delinsAA
XM_005248282.3:c.4966-13_4966-12delinsAA XP_005248339.2:n.4966-13_4966-12delinsAA
XM_006714467.2:c.5710-13_5710-12delinsAA XP_006714530.1:n.5710-13_5710-12delinsAA
XM_006714468.1:c.5512-13_5512-12delinsAA XP_006714531.1:n.5512-13_5512-12delinsAA
XM_011514014.1:c.5329-13_5329-12delinsAA XP_011512316.1:n.5329-13_5329-12delinsAA
XM_011514015.1:c.5710-13_5710-12delinsAA XP_011512317.1:n.5710-13_5710-12delinsAA
XM_005248280.3:c.5710-13_5710-12delinsAA XP_005248337.1:n.5710-13_5710-12delinsAA
XM_005248282.5:c.5050-13_5050-12delinsAA XP_005248339.3:n.5050-13_5050-12delinsAA
XM_006714468.2:c.5512-13_5512-12delinsAA XP_006714531.1:n.5512-13_5512-12delinsAA
XM_017009329.1:c.5710-13_5710-12delinsAA XP_016864818.1:n.5710-13_5710-12delinsAA
XM_017009330.2:c.4093-13_4093-12delinsAA XP_016864819.1:n.4093-13_4093-12delinsAA
XM_017009331.1:c.4084-13_4084-12delinsAA XP_016864820.1:n.4084-13_4084-12delinsAA
NM_133433.4:c.5710-13_5710-12delinsAA MANE Select NP_597677.2:n.5710-13_5710-12delinsAA
NM_015384.5:c.5710-13_5710-12delinsAA NP_056199.2:n.5710-13_5710-12delinsAA