Canonical Allele Identifier: CA1539600642
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37000291C= , CM000667.2:g.37000291C= GRCh38
NC_000005.9:g.37000393C= , CM000667.1:g.37000393C= GRCh37
NC_000005.8:g.37036150C= NCBI36
NG_006987.1:g.128409C=
NG_006987.2:g.128409C=

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3305-82C= MANE Select ENSP00000282516.8:n.3305-82C=
ENST00000652901.1:c.3305-82C= ENSP00000499536.1:n.3305-82C=
ENST00000282516.12:c.3305-82C= ENSP00000282516.8:n.3305-82C=
ENST00000448238.2:c.3305-82C= ENSP00000406266.2:n.3305-82C=
ENST00000503274.1:n.656-82C=
ENST00000621733.1:c.1-64287C= ENSP00000480694.1:n.1-64287C=
NM_015384.4:c.3305-82C= NP_056199.2:n.3305-82C=
NM_133433.3:c.3305-82C= NP_597677.2:n.3305-82C=
XM_005248280.2:c.3305-82C= XP_005248337.1:n.3305-82C=
XM_005248282.3:c.2561-82C= XP_005248339.2:n.2561-82C=
XM_006714467.2:c.3305-82C= XP_006714530.1:n.3305-82C=
XM_006714468.1:c.3305-526C= XP_006714531.1:n.3305-526C=
XM_011514014.1:c.3122-526C= XP_011512316.1:n.3122-526C=
XM_011514015.1:c.3305-82C= XP_011512317.1:n.3305-82C=
XM_005248280.3:c.3305-82C= XP_005248337.1:n.3305-82C=
XM_005248282.5:c.2645-82C= XP_005248339.3:n.2645-82C=
XM_006714468.2:c.3305-526C= XP_006714531.1:n.3305-526C=
XM_017009329.1:c.3305-82C= XP_016864818.1:n.3305-82C=
XM_017009330.2:c.1688-82C= XP_016864819.1:n.1688-82C=
XM_017009331.1:c.1679-82C= XP_016864820.1:n.1679-82C=
NM_133433.4:c.3305-82C= MANE Select NP_597677.2:n.3305-82C=
NM_015384.5:c.3305-82C= NP_056199.2:n.3305-82C=