Canonical Allele Identifier: CA2529746679
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36995604_36995605insCAACTGTTTATTTTAATAAAACACAACTATAATACTC , CM000667.2:g.36995604_36995605insCAACTGTTTATTTTAATAAAACACAACTATAATACTC GRCh38
NC_000005.9:g.36995706_36995707insCAACTGTTTATTTTAATAAAACACAACTATAATACTC , CM000667.1:g.36995706_36995707insCAACTGTTTATTTTAATAAAACACAACTATAATACTC GRCh37
NC_000005.8:g.37031463_37031464insCAACTGTTTATTTTAATAAAACACAACTATAATACTC NCBI36
NG_006987.1:g.123722_123723insCAACTGTTTATTTTAATAAAACACAACTATAATACTC
NG_006987.2:g.123722_123723insCAACTGTTTATTTTAATAAAACACAACTATAATACTC

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3122-18_3122-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC MANE Select ENSP00000282516.8:n.3122-18_3122-17insCAA...
ENST00000652901.1:c.3122-18_3122-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC ENSP00000499536.1:n.3122-18_3122-17insCAA...
ENST00000282516.12:c.3122-18_3122-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC ENSP00000282516.8:n.3122-18_3122-17insCAA...
ENST00000448238.2:c.3122-18_3122-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC ENSP00000406266.2:n.3122-18_3122-17insCAA...
ENST00000503274.1:n.455_456insCAACTGTTTATTTTAATAAAACACAACTATAATACTC
ENST00000504430.5:n.2742-18_2742-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC
ENST00000621733.1:c.1-68974_1-68973insCAACTGTTTATTTTAATAAAACACAACTATAATACTC ENSP00000480694.1:n.1-68974_1-68973insCAA...
NM_015384.4:c.3122-18_3122-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC NP_056199.2:n.3122-18_3122-17insCAACTGTTT...
NM_133433.3:c.3122-18_3122-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC NP_597677.2:n.3122-18_3122-17insCAACTGTTT...
XM_005248280.2:c.3122-18_3122-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC XP_005248337.1:n.3122-18_3122-17insCAACTG...
XM_005248282.3:c.2378-18_2378-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC XP_005248339.2:n.2378-18_2378-17insCAACTG...
XM_006714467.2:c.3122-18_3122-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC XP_006714530.1:n.3122-18_3122-17insCAACTG...
XM_006714468.1:c.3122-18_3122-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC XP_006714531.1:n.3122-18_3122-17insCAACTG...
XM_011514014.1:c.3122-5213_3122-5212insCAACTGTTTATTTTAATAAAACACAACTATAATACTC XP_011512316.1:n.3122-5213_3122-5212insCA...
XM_011514015.1:c.3122-18_3122-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC XP_011512317.1:n.3122-18_3122-17insCAACTG...
XM_005248280.3:c.3122-18_3122-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC XP_005248337.1:n.3122-18_3122-17insCAACTG...
XM_005248282.5:c.2462-18_2462-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC XP_005248339.3:n.2462-18_2462-17insCAACTG...
XM_006714468.2:c.3122-18_3122-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC XP_006714531.1:n.3122-18_3122-17insCAACTG...
XM_017009329.1:c.3122-18_3122-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC XP_016864818.1:n.3122-18_3122-17insCAACTG...
XM_017009330.2:c.1505-18_1505-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC XP_016864819.1:n.1505-18_1505-17insCAACTG...
XM_017009331.1:c.1496-18_1496-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC XP_016864820.1:n.1496-18_1496-17insCAACTG...
NM_133433.4:c.3122-18_3122-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC MANE Select NP_597677.2:n.3122-18_3122-17insCAACTGTTT...
NM_015384.5:c.3122-18_3122-17insCAACTGTTTATTTTAATAAAACACAACTATAATACTC NP_056199.2:n.3122-18_3122-17insCAACTGTTT...