Canonical Allele Identifier: CA1539618629
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045602_37045603delinsAG , CM000667.2:g.37045602_37045603delinsAG GRCh38
NC_000005.9:g.37045704_37045705delinsAG , CM000667.1:g.37045704_37045705delinsAG GRCh37
NC_000005.8:g.37081461_37081462delinsAG NCBI36
NG_006987.1:g.173720_173721delinsAG
NG_006987.2:g.173720_173721delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6498+5_6498+6delinsAG MANE Select ENSP00000282516.8:n.6498+5_6498+6delinsAG...
ENST00000652901.1:c.6498+5_6498+6delinsAG ENSP00000499536.1:n.6498+5_6498+6delinsAG...
ENST00000282516.12:c.6498+5_6498+6delinsAG ENSP00000282516.8:n.6498+5_6498+6delinsAG...
ENST00000448238.2:c.6498+5_6498+6delinsAG ENSP00000406266.2:n.6498+5_6498+6delinsAG...
ENST00000621733.1:c.1-18976_1-18975delinsAG ENSP00000480694.1:n.1-18976_1-18975delins...
NM_015384.4:c.6498+5_6498+6delinsAG NP_056199.2:n.6498+5_6498+6delinsAG
NM_133433.3:c.6498+5_6498+6delinsAG NP_597677.2:n.6498+5_6498+6delinsAG
XM_005248280.2:c.6498+5_6498+6delinsAG XP_005248337.1:n.6498+5_6498+6delinsAG
XM_005248282.3:c.5754+5_5754+6delinsAG XP_005248339.2:n.5754+5_5754+6delinsAG
XM_006714467.2:c.6498+5_6498+6delinsAG XP_006714530.1:n.6498+5_6498+6delinsAG
XM_006714468.1:c.6300+5_6300+6delinsAG XP_006714531.1:n.6300+5_6300+6delinsAG
XM_011514014.1:c.6117+5_6117+6delinsAG XP_011512316.1:n.6117+5_6117+6delinsAG
XM_011514015.1:c.6498+5_6498+6delinsAG XP_011512317.1:n.6498+5_6498+6delinsAG
XM_005248280.3:c.6498+5_6498+6delinsAG XP_005248337.1:n.6498+5_6498+6delinsAG
XM_005248282.5:c.5838+5_5838+6delinsAG XP_005248339.3:n.5838+5_5838+6delinsAG
XM_006714468.2:c.6300+5_6300+6delinsAG XP_006714531.1:n.6300+5_6300+6delinsAG
XM_017009329.1:c.6498+5_6498+6delinsAG XP_016864818.1:n.6498+5_6498+6delinsAG
XM_017009330.2:c.4881+5_4881+6delinsAG XP_016864819.1:n.4881+5_4881+6delinsAG
XM_017009331.1:c.4872+5_4872+6delinsAG XP_016864820.1:n.4872+5_4872+6delinsAG
NM_133433.4:c.6498+5_6498+6delinsAG MANE Select NP_597677.2:n.6498+5_6498+6delinsAG
NM_015384.5:c.6498+5_6498+6delinsAG NP_056199.2:n.6498+5_6498+6delinsAG