Canonical Allele Identifier: CA1539599597
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36995451_36995455delinsATATT , CM000667.2:g.36995451_36995455delinsATATT GRCh38
NC_000005.9:g.36995553_36995557delinsATATT , CM000667.1:g.36995553_36995557delinsATATT GRCh37
NC_000005.8:g.37031310_37031314delinsATATT NCBI36
NG_006987.1:g.123569_123573delinsATATT
NG_006987.2:g.123569_123573delinsATATT

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3122-171_3122-167delinsATATT MANE Select ENSP00000282516.8:n.3122-171_3122-167deli...
ENST00000652901.1:c.3122-171_3122-167delinsATATT ENSP00000499536.1:n.3122-171_3122-167deli...
ENST00000282516.12:c.3122-171_3122-167delinsATATT ENSP00000282516.8:n.3122-171_3122-167deli...
ENST00000448238.2:c.3122-171_3122-167delinsATATT ENSP00000406266.2:n.3122-171_3122-167deli...
ENST00000503274.1:n.302_306delinsATATT
ENST00000504430.5:n.2742-171_2742-167delinsATATT
ENST00000621733.1:c.1-69127_1-69123delinsATATT ENSP00000480694.1:n.1-69127_1-69123delins...
NM_015384.4:c.3122-171_3122-167delinsATATT NP_056199.2:n.3122-171_3122-167delinsATAT...
NM_133433.3:c.3122-171_3122-167delinsATATT NP_597677.2:n.3122-171_3122-167delinsATAT...
XM_005248280.2:c.3122-171_3122-167delinsATATT XP_005248337.1:n.3122-171_3122-167delinsA...
XM_005248282.3:c.2378-171_2378-167delinsATATT XP_005248339.2:n.2378-171_2378-167delinsA...
XM_006714467.2:c.3122-171_3122-167delinsATATT XP_006714530.1:n.3122-171_3122-167delinsA...
XM_006714468.1:c.3122-171_3122-167delinsATATT XP_006714531.1:n.3122-171_3122-167delinsA...
XM_011514014.1:c.3122-5366_3122-5362delinsATATT XP_011512316.1:n.3122-5366_3122-5362delin...
XM_011514015.1:c.3122-171_3122-167delinsATATT XP_011512317.1:n.3122-171_3122-167delinsA...
XM_005248280.3:c.3122-171_3122-167delinsATATT XP_005248337.1:n.3122-171_3122-167delinsA...
XM_005248282.5:c.2462-171_2462-167delinsATATT XP_005248339.3:n.2462-171_2462-167delinsA...
XM_006714468.2:c.3122-171_3122-167delinsATATT XP_006714531.1:n.3122-171_3122-167delinsA...
XM_017009329.1:c.3122-171_3122-167delinsATATT XP_016864818.1:n.3122-171_3122-167delinsA...
XM_017009330.2:c.1505-171_1505-167delinsATATT XP_016864819.1:n.1505-171_1505-167delinsA...
XM_017009331.1:c.1496-171_1496-167delinsATATT XP_016864820.1:n.1496-171_1496-167delinsA...
NM_133433.4:c.3122-171_3122-167delinsATATT MANE Select NP_597677.2:n.3122-171_3122-167delinsATAT...
NM_015384.5:c.3122-171_3122-167delinsATATT NP_056199.2:n.3122-171_3122-167delinsATAT...