Canonical Allele Identifier: CA2708536143
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs2149597227

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36953463_36953464insC , CM000667.2:g.36953463_36953464insC GRCh38
NC_000005.9:g.36953565_36953566insC , CM000667.1:g.36953565_36953566insC GRCh37
NC_000005.8:g.36989322_36989323insC NCBI36
NG_006987.1:g.81581_81582insC
NG_006987.2:g.81581_81582insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.-79-155_-79-154insC MANE Select ENSP00000282516.8:n.-79-155_-79-154insC
ENST00000652901.1:c.-79-155_-79-154insC ENSP00000499536.1:n.-79-155_-79-154insC
ENST00000282516.12:c.-79-155_-79-154insC ENSP00000282516.8:n.-79-155_-79-154insC
ENST00000448238.2:c.-79-155_-79-154insC ENSP00000406266.2:n.-79-155_-79-154insC
ENST00000621733.1:c.-1+76441_-1+76442insC ENSP00000480694.1:n.-1+76441_-1+76442insC
NM_015384.4:c.-79-155_-79-154insC NP_056199.2:n.-79-155_-79-154insC
NM_133433.3:c.-79-155_-79-154insC NP_597677.2:n.-79-155_-79-154insC
XM_005248280.2:c.-79-155_-79-154insC XP_005248337.1:n.-79-155_-79-154insC
XM_006714467.2:c.-79-155_-79-154insC XP_006714530.1:n.-79-155_-79-154insC
XM_006714468.1:c.-79-155_-79-154insC XP_006714531.1:n.-79-155_-79-154insC
XM_011514014.1:c.-79-155_-79-154insC XP_011512316.1:n.-79-155_-79-154insC
XM_011514015.1:c.-79-155_-79-154insC XP_011512317.1:n.-79-155_-79-154insC
XM_005248280.3:c.-79-155_-79-154insC XP_005248337.1:n.-79-155_-79-154insC
XM_006714468.2:c.-79-155_-79-154insC XP_006714531.1:n.-79-155_-79-154insC
XM_017009329.1:c.-79-155_-79-154insC XP_016864818.1:n.-79-155_-79-154insC
XM_017009331.1:c.-79-155_-79-154insC XP_016864820.1:n.-79-155_-79-154insC
NM_133433.4:c.-79-155_-79-154insC MANE Select NP_597677.2:n.-79-155_-79-154insC
NM_015384.5:c.-79-155_-79-154insC NP_056199.2:n.-79-155_-79-154insC