Canonical Allele Identifier: CA1539618438
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045409_37045411delinsAAT , CM000667.2:g.37045409_37045411delinsAAT GRCh38
NC_000005.9:g.37045511_37045513delinsAAT , CM000667.1:g.37045511_37045513delinsAAT GRCh37
NC_000005.8:g.37081268_37081270delinsAAT NCBI36
NG_006987.1:g.173527_173529delinsAAT
NG_006987.2:g.173527_173529delinsAAT

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6344-34_6344-32delinsAAT MANE Select ENSP00000282516.8:n.6344-34_6344-32delins...
ENST00000652901.1:c.6344-34_6344-32delinsAAT ENSP00000499536.1:n.6344-34_6344-32delins...
ENST00000282516.12:c.6344-34_6344-32delinsAAT ENSP00000282516.8:n.6344-34_6344-32delins...
ENST00000448238.2:c.6344-34_6344-32delinsAAT ENSP00000406266.2:n.6344-34_6344-32delins...
ENST00000621733.1:c.1-19169_1-19167delinsAAT ENSP00000480694.1:n.1-19169_1-19167delins...
NM_015384.4:c.6344-34_6344-32delinsAAT NP_056199.2:n.6344-34_6344-32delinsAAT
NM_133433.3:c.6344-34_6344-32delinsAAT NP_597677.2:n.6344-34_6344-32delinsAAT
XM_005248280.2:c.6344-34_6344-32delinsAAT XP_005248337.1:n.6344-34_6344-32delinsAAT...
XM_005248282.3:c.5600-34_5600-32delinsAAT XP_005248339.2:n.5600-34_5600-32delinsAAT...
XM_006714467.2:c.6344-34_6344-32delinsAAT XP_006714530.1:n.6344-34_6344-32delinsAAT...
XM_006714468.1:c.6146-34_6146-32delinsAAT XP_006714531.1:n.6146-34_6146-32delinsAAT...
XM_011514014.1:c.5963-34_5963-32delinsAAT XP_011512316.1:n.5963-34_5963-32delinsAAT...
XM_011514015.1:c.6344-34_6344-32delinsAAT XP_011512317.1:n.6344-34_6344-32delinsAAT...
XM_005248280.3:c.6344-34_6344-32delinsAAT XP_005248337.1:n.6344-34_6344-32delinsAAT...
XM_005248282.5:c.5684-34_5684-32delinsAAT XP_005248339.3:n.5684-34_5684-32delinsAAT...
XM_006714468.2:c.6146-34_6146-32delinsAAT XP_006714531.1:n.6146-34_6146-32delinsAAT...
XM_017009329.1:c.6344-34_6344-32delinsAAT XP_016864818.1:n.6344-34_6344-32delinsAAT...
XM_017009330.2:c.4727-34_4727-32delinsAAT XP_016864819.1:n.4727-34_4727-32delinsAAT...
XM_017009331.1:c.4718-34_4718-32delinsAAT XP_016864820.1:n.4718-34_4718-32delinsAAT...
NM_133433.4:c.6344-34_6344-32delinsAAT MANE Select NP_597677.2:n.6344-34_6344-32delinsAAT
NM_015384.5:c.6344-34_6344-32delinsAAT NP_056199.2:n.6344-34_6344-32delinsAAT