Canonical Allele Identifier: CA2673552144
Gene: NIPBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36958001_36958002insG , CM000667.2:g.36958001_36958002insG GRCh38
NC_000005.9:g.36958103_36958104insG , CM000667.1:g.36958103_36958104insG GRCh37
NC_000005.8:g.36993860_36993861insG NCBI36
NG_006987.1:g.86119_86120insG
NG_006987.2:g.86119_86120insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.231-103_231-102insG MANE Select ENSP00000282516.8:n.231-103_231-102insG
ENST00000652901.1:c.231-103_231-102insG ENSP00000499536.1:n.231-103_231-102insG
ENST00000282516.12:c.231-103_231-102insG ENSP00000282516.8:n.231-103_231-102insG
ENST00000448238.2:c.231-103_231-102insG ENSP00000406266.2:n.231-103_231-102insG
ENST00000505998.5:n.210-103_210-102insG
ENST00000621733.1:c.-1+80979_-1+80980insG ENSP00000480694.1:n.-1+80979_-1+80980insG
NM_015384.4:c.231-103_231-102insG NP_056199.2:n.231-103_231-102insG
NM_133433.3:c.231-103_231-102insG NP_597677.2:n.231-103_231-102insG
XM_005248280.2:c.231-103_231-102insG XP_005248337.1:n.231-103_231-102insG
XM_006714467.2:c.231-103_231-102insG XP_006714530.1:n.231-103_231-102insG
XM_006714468.1:c.231-103_231-102insG XP_006714531.1:n.231-103_231-102insG
XM_011514014.1:c.231-103_231-102insG XP_011512316.1:n.231-103_231-102insG
XM_011514015.1:c.231-103_231-102insG XP_011512317.1:n.231-103_231-102insG
XM_005248280.3:c.231-103_231-102insG XP_005248337.1:n.231-103_231-102insG
XM_006714468.2:c.231-103_231-102insG XP_006714531.1:n.231-103_231-102insG
XM_017009329.1:c.231-103_231-102insG XP_016864818.1:n.231-103_231-102insG
XM_017009331.1:c.231-103_231-102insG XP_016864820.1:n.231-103_231-102insG
NM_133433.4:c.231-103_231-102insG MANE Select NP_597677.2:n.231-103_231-102insG
NM_015384.5:c.231-103_231-102insG NP_056199.2:n.231-103_231-102insG