Canonical Allele Identifier: CA1539599730

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995508_36995512delinsTAAAC , CM000667.2:g.36995508_36995512delinsTAAAC	GRCh38
NC_000005.9:g.36995610_36995614delinsTAAAC , CM000667.1:g.36995610_36995614delinsTAAAC	GRCh37
NC_000005.8:g.37031367_37031371delinsTAAAC	NCBI36
NG_006987.1:g.123626_123630delinsTAAAC
NG_006987.2:g.123626_123630delinsTAAAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3122-114_3122-110delinsTAAAC MANE Select	ENSP00000282516.8:n.3122-114_3122-110deli...
ENST00000652901.1:c.3122-114_3122-110delinsTAAAC	ENSP00000499536.1:n.3122-114_3122-110deli...
ENST00000282516.12:c.3122-114_3122-110delinsTAAAC	ENSP00000282516.8:n.3122-114_3122-110deli...
ENST00000448238.2:c.3122-114_3122-110delinsTAAAC	ENSP00000406266.2:n.3122-114_3122-110deli...
ENST00000503274.1:n.359_363delinsTAAAC
ENST00000504430.5:n.2742-114_2742-110delinsTAAAC
ENST00000621733.1:c.1-69070_1-69066delinsTAAAC	ENSP00000480694.1:n.1-69070_1-69066delins...
NM_015384.4:c.3122-114_3122-110delinsTAAAC	NP_056199.2:n.3122-114_3122-110delinsTAAA...
NM_133433.3:c.3122-114_3122-110delinsTAAAC	NP_597677.2:n.3122-114_3122-110delinsTAAA...
XM_005248280.2:c.3122-114_3122-110delinsTAAAC	XP_005248337.1:n.3122-114_3122-110delinsT...
XM_005248282.3:c.2378-114_2378-110delinsTAAAC	XP_005248339.2:n.2378-114_2378-110delinsT...
XM_006714467.2:c.3122-114_3122-110delinsTAAAC	XP_006714530.1:n.3122-114_3122-110delinsT...
XM_006714468.1:c.3122-114_3122-110delinsTAAAC	XP_006714531.1:n.3122-114_3122-110delinsT...
XM_011514014.1:c.3122-5309_3122-5305delinsTAAAC	XP_011512316.1:n.3122-5309_3122-5305delin...
XM_011514015.1:c.3122-114_3122-110delinsTAAAC	XP_011512317.1:n.3122-114_3122-110delinsT...
XM_005248280.3:c.3122-114_3122-110delinsTAAAC	XP_005248337.1:n.3122-114_3122-110delinsT...
XM_005248282.5:c.2462-114_2462-110delinsTAAAC	XP_005248339.3:n.2462-114_2462-110delinsT...
XM_006714468.2:c.3122-114_3122-110delinsTAAAC	XP_006714531.1:n.3122-114_3122-110delinsT...
XM_017009329.1:c.3122-114_3122-110delinsTAAAC	XP_016864818.1:n.3122-114_3122-110delinsT...
XM_017009330.2:c.1505-114_1505-110delinsTAAAC	XP_016864819.1:n.1505-114_1505-110delinsT...
XM_017009331.1:c.1496-114_1496-110delinsTAAAC	XP_016864820.1:n.1496-114_1496-110delinsT...
NM_133433.4:c.3122-114_3122-110delinsTAAAC MANE Select	NP_597677.2:n.3122-114_3122-110delinsTAAA...
NM_015384.5:c.3122-114_3122-110delinsTAAAC	NP_056199.2:n.3122-114_3122-110delinsTAAA...