Canonical Allele Identifier: CA3236236
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs772802539

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36986053_36986054insCTTTACTAGTTGG , CM000667.2:g.36986053_36986054insCTTTACTAGTTGG GRCh38
NC_000005.9:g.36986155_36986156insCTTTACTAGTTGG , CM000667.1:g.36986155_36986156insCTTTACTAGTTGG GRCh37
NC_000005.8:g.37021912_37021913insCTTTACTAGTTGG NCBI36
NG_006987.1:g.114171_114172insCTTTACTAGTTGG
NG_006987.2:g.114171_114172insCTTTACTAGTTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.2873_2874insCTTTACTAGTTGG MANE Select ENSP00000282516.8:p.Pro959PhefsTer11
ENST00000652901.1:c.2873_2874insCTTTACTAGTTGG ENSP00000499536.1:p.Pro959PhefsTer11
ENST00000282516.12:c.2873_2874insCTTTACTAGTTGG ENSP00000282516.8:p.Pro959PhefsTer11
ENST00000448238.2:c.2873_2874insCTTTACTAGTTGG ENSP00000406266.2:p.Pro959PhefsTer11
ENST00000504430.5:n.2493_2494insCTTTACTAGTTGG
ENST00000621733.1:c.1-78525_1-78524insCTTTACTAGTTGG ENSP00000480694.1:n.1-78525_1-78524insCTTTACTAGTTGG
NM_015384.4:c.2873_2874insCTTTACTAGTTGG NP_056199.2:p.Pro959PhefsTer11
NM_133433.3:c.2873_2874insCTTTACTAGTTGG NP_597677.2:p.Pro959PhefsTer11
XM_005248280.2:c.2873_2874insCTTTACTAGTTGG XP_005248337.1:p.Pro959PhefsTer11
XM_005248282.3:c.2129_2130insCTTTACTAGTTGG XP_005248339.2:p.Pro711PhefsTer11
XM_006714467.2:c.2873_2874insCTTTACTAGTTGG XP_006714530.1:p.Pro959PhefsTer11
XM_006714468.1:c.2873_2874insCTTTACTAGTTGG XP_006714531.1:p.Pro959PhefsTer11
XM_011514014.1:c.2873_2874insCTTTACTAGTTGG XP_011512316.1:p.Pro959PhefsTer11
XM_011514015.1:c.2873_2874insCTTTACTAGTTGG XP_011512317.1:p.Pro959PhefsTer11
XM_005248280.3:c.2873_2874insCTTTACTAGTTGG XP_005248337.1:p.Pro959PhefsTer11
XM_005248282.5:c.2213_2214insCTTTACTAGTTGG XP_005248339.3:p.Pro739PhefsTer11
XM_006714468.2:c.2873_2874insCTTTACTAGTTGG XP_006714531.1:p.Pro959PhefsTer11
XM_017009329.1:c.2873_2874insCTTTACTAGTTGG XP_016864818.1:p.Pro959PhefsTer11
XM_017009330.2:c.1256_1257insCTTTACTAGTTGG XP_016864819.1:p.Pro420PhefsTer11
XM_017009331.1:c.1496-9569_1496-9568insCTTTACTAGTTGG XP_016864820.1:n.1496-9569_1496-9568insCTTTACTAGTTGG
NM_133433.4:c.2873_2874insCTTTACTAGTTGG MANE Select NP_597677.2:p.Pro959PhefsTer11
NM_015384.5:c.2873_2874insCTTTACTAGTTGG NP_056199.2:p.Pro959PhefsTer11