Canonical Allele Identifier: CA1539596079
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37026197_37026198delinsAT , CM000667.2:g.37026197_37026198delinsAT GRCh38
NC_000005.9:g.37026299_37026300delinsAT , CM000667.1:g.37026299_37026300delinsAT GRCh37
NC_000005.8:g.37062056_37062057delinsAT NCBI36
NG_006987.1:g.154315_154316delinsAT
NG_006987.2:g.154315_154316delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.5710-32_5710-31delinsAT MANE Select ENSP00000282516.8:n.5710-32_5710-31delins...
ENST00000652901.1:c.5710-32_5710-31delinsAT ENSP00000499536.1:n.5710-32_5710-31delins...
ENST00000282516.12:c.5710-32_5710-31delinsAT ENSP00000282516.8:n.5710-32_5710-31delins...
ENST00000448238.2:c.5710-32_5710-31delinsAT ENSP00000406266.2:n.5710-32_5710-31delins...
ENST00000621733.1:c.1-38381_1-38380delinsAT ENSP00000480694.1:n.1-38381_1-38380delins...
NM_015384.4:c.5710-32_5710-31delinsAT NP_056199.2:n.5710-32_5710-31delinsAT
NM_133433.3:c.5710-32_5710-31delinsAT NP_597677.2:n.5710-32_5710-31delinsAT
XM_005248280.2:c.5710-32_5710-31delinsAT XP_005248337.1:n.5710-32_5710-31delinsAT
XM_005248282.3:c.4966-32_4966-31delinsAT XP_005248339.2:n.4966-32_4966-31delinsAT
XM_006714467.2:c.5710-32_5710-31delinsAT XP_006714530.1:n.5710-32_5710-31delinsAT
XM_006714468.1:c.5512-32_5512-31delinsAT XP_006714531.1:n.5512-32_5512-31delinsAT
XM_011514014.1:c.5329-32_5329-31delinsAT XP_011512316.1:n.5329-32_5329-31delinsAT
XM_011514015.1:c.5710-32_5710-31delinsAT XP_011512317.1:n.5710-32_5710-31delinsAT
XM_005248280.3:c.5710-32_5710-31delinsAT XP_005248337.1:n.5710-32_5710-31delinsAT
XM_005248282.5:c.5050-32_5050-31delinsAT XP_005248339.3:n.5050-32_5050-31delinsAT
XM_006714468.2:c.5512-32_5512-31delinsAT XP_006714531.1:n.5512-32_5512-31delinsAT
XM_017009329.1:c.5710-32_5710-31delinsAT XP_016864818.1:n.5710-32_5710-31delinsAT
XM_017009330.2:c.4093-32_4093-31delinsAT XP_016864819.1:n.4093-32_4093-31delinsAT
XM_017009331.1:c.4084-32_4084-31delinsAT XP_016864820.1:n.4084-32_4084-31delinsAT
NM_133433.4:c.5710-32_5710-31delinsAT MANE Select NP_597677.2:n.5710-32_5710-31delinsAT
NM_015384.5:c.5710-32_5710-31delinsAT NP_056199.2:n.5710-32_5710-31delinsAT