Canonical Allele Identifier: CA2673574231
Gene: NIPBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36995441_36995442insTA , CM000667.2:g.36995441_36995442insTA GRCh38
NC_000005.9:g.36995543_36995544insTA , CM000667.1:g.36995543_36995544insTA GRCh37
NC_000005.8:g.37031300_37031301insTA NCBI36
NG_006987.1:g.123559_123560insTA
NG_006987.2:g.123559_123560insTA

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3122-181_3122-180insTA MANE Select ENSP00000282516.8:n.3122-181_3122-180insT...
ENST00000652901.1:c.3122-181_3122-180insTA ENSP00000499536.1:n.3122-181_3122-180insT...
ENST00000282516.12:c.3122-181_3122-180insTA ENSP00000282516.8:n.3122-181_3122-180insT...
ENST00000448238.2:c.3122-181_3122-180insTA ENSP00000406266.2:n.3122-181_3122-180insT...
ENST00000503274.1:n.292_293insTA
ENST00000504430.5:n.2742-181_2742-180insTA
ENST00000621733.1:c.1-69137_1-69136insTA ENSP00000480694.1:n.1-69137_1-69136insTA
NM_015384.4:c.3122-181_3122-180insTA NP_056199.2:n.3122-181_3122-180insTA
NM_133433.3:c.3122-181_3122-180insTA NP_597677.2:n.3122-181_3122-180insTA
XM_005248280.2:c.3122-181_3122-180insTA XP_005248337.1:n.3122-181_3122-180insTA
XM_005248282.3:c.2378-181_2378-180insTA XP_005248339.2:n.2378-181_2378-180insTA
XM_006714467.2:c.3122-181_3122-180insTA XP_006714530.1:n.3122-181_3122-180insTA
XM_006714468.1:c.3122-181_3122-180insTA XP_006714531.1:n.3122-181_3122-180insTA
XM_011514014.1:c.3122-5376_3122-5375insTA XP_011512316.1:n.3122-5376_3122-5375insTA...
XM_011514015.1:c.3122-181_3122-180insTA XP_011512317.1:n.3122-181_3122-180insTA
XM_005248280.3:c.3122-181_3122-180insTA XP_005248337.1:n.3122-181_3122-180insTA
XM_005248282.5:c.2462-181_2462-180insTA XP_005248339.3:n.2462-181_2462-180insTA
XM_006714468.2:c.3122-181_3122-180insTA XP_006714531.1:n.3122-181_3122-180insTA
XM_017009329.1:c.3122-181_3122-180insTA XP_016864818.1:n.3122-181_3122-180insTA
XM_017009330.2:c.1505-181_1505-180insTA XP_016864819.1:n.1505-181_1505-180insTA
XM_017009331.1:c.1496-181_1496-180insTA XP_016864820.1:n.1496-181_1496-180insTA
NM_133433.4:c.3122-181_3122-180insTA MANE Select NP_597677.2:n.3122-181_3122-180insTA
NM_015384.5:c.3122-181_3122-180insTA NP_056199.2:n.3122-181_3122-180insTA