Canonical Allele Identifier: CA2573052496
Community Standard Title: NM_133433.4(NIPBL):c.-457_-456delinsAT
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876801_36876802delinsAT , CM000667.2:g.36876801_36876802delinsAT GRCh38
NC_000005.9:g.36876903_36876904delinsAT , CM000667.1:g.36876903_36876904delinsAT GRCh37
NC_000005.8:g.36912660_36912661delinsAT NCBI36
NG_006987.1:g.4919_4920delinsAT
NG_006987.2:g.4919_4920delinsAT

Transcript Alleles

HGVS Amino-acid Change
NM_133433.4:c.-457_-456delinsAT MANE Select NP_597677.2:n.-457_-456delinsAT
ENST00000282516.13:c.-457_-456delinsAT MANE Select ENSP00000282516.8:n.-457_-456delinsAT
NM_015384.4:c.-457_-456delinsAT NP_056199.2:n.-457_-456delinsAT
NM_015384.5:c.-457_-456delinsAT NP_056199.2:n.-457_-456delinsAT
NM_133433.3:c.-457_-456delinsAT NP_597677.2:n.-457_-456delinsAT
ENST00000282516.12:c.-457_-456delinsAT ENSP00000282516.8:n.-457_-456delinsAT
ENST00000448238.2:c.-457_-456delinsAT ENSP00000406266.2:n.-457_-456delinsAT
XM_005248280.2:c.-457_-456delinsAT XP_005248337.1:n.-457_-456delinsAT
XM_005248280.3:c.-457_-456delinsAT XP_005248337.1:n.-457_-456delinsAT
XM_006714467.2:c.-457_-456delinsAT XP_006714530.1:n.-457_-456delinsAT
XM_006714468.1:c.-457_-456delinsAT XP_006714531.1:n.-457_-456delinsAT
XM_006714468.2:c.-457_-456delinsAT XP_006714531.1:n.-457_-456delinsAT
XM_011514014.1:c.-457_-456delinsAT XP_011512316.1:n.-457_-456delinsAT
XM_011514015.1:c.-457_-456delinsAT XP_011512317.1:n.-457_-456delinsAT
XM_017009329.1:c.-457_-456delinsAT XP_016864818.1:n.-457_-456delinsAT
XM_017009331.1:c.-457_-456delinsAT XP_016864820.1:n.-457_-456delinsAT