Canonical Allele Identifier: CA2765899202
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37048970_37048971insAT , CM000667.2:g.37048970_37048971insAT GRCh38
NC_000005.9:g.37049072_37049073insAT , CM000667.1:g.37049072_37049073insAT GRCh37
NC_000005.8:g.37084829_37084830insAT NCBI36
NG_006987.1:g.177088_177089insAT
NG_006987.2:g.177088_177089insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.6764-141_6764-140insAT MANE Select ENSP00000282516.8:n.6764-141_6764-140insAT
ENST00000652901.1:c.6764-141_6764-140insAT ENSP00000499536.1:n.6764-141_6764-140insAT
ENST00000282516.12:c.6764-141_6764-140insAT ENSP00000282516.8:n.6764-141_6764-140insAT
ENST00000448238.2:c.6764-141_6764-140insAT ENSP00000406266.2:n.6764-141_6764-140insAT
ENST00000621733.1:c.1-15608_1-15607insAT ENSP00000480694.1:n.1-15608_1-15607insAT
NM_015384.4:c.6764-141_6764-140insAT NP_056199.2:n.6764-141_6764-140insAT
NM_133433.3:c.6764-141_6764-140insAT NP_597677.2:n.6764-141_6764-140insAT
XM_005248280.2:c.6764-141_6764-140insAT XP_005248337.1:n.6764-141_6764-140insAT
XM_005248282.3:c.6020-141_6020-140insAT XP_005248339.2:n.6020-141_6020-140insAT
XM_006714467.2:c.6764-141_6764-140insAT XP_006714530.1:n.6764-141_6764-140insAT
XM_006714468.1:c.6566-141_6566-140insAT XP_006714531.1:n.6566-141_6566-140insAT
XM_011514014.1:c.6383-141_6383-140insAT XP_011512316.1:n.6383-141_6383-140insAT
XM_011514015.1:c.6764-141_6764-140insAT XP_011512317.1:n.6764-141_6764-140insAT
XM_005248280.3:c.6764-141_6764-140insAT XP_005248337.1:n.6764-141_6764-140insAT
XM_005248282.5:c.6104-141_6104-140insAT XP_005248339.3:n.6104-141_6104-140insAT
XM_006714468.2:c.6566-141_6566-140insAT XP_006714531.1:n.6566-141_6566-140insAT
XM_017009329.1:c.6764-141_6764-140insAT XP_016864818.1:n.6764-141_6764-140insAT
XM_017009330.2:c.5147-141_5147-140insAT XP_016864819.1:n.5147-141_5147-140insAT
XM_017009331.1:c.5138-141_5138-140insAT XP_016864820.1:n.5138-141_5138-140insAT
NM_133433.4:c.6764-141_6764-140insAT MANE Select NP_597677.2:n.6764-141_6764-140insAT
NM_015384.5:c.6764-141_6764-140insAT NP_056199.2:n.6764-141_6764-140insAT