Canonical Allele Identifier: CA1539599600

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995458_36995462delinsCTATA , CM000667.2:g.36995458_36995462delinsCTATA	GRCh38
NC_000005.9:g.36995560_36995564delinsCTATA , CM000667.1:g.36995560_36995564delinsCTATA	GRCh37
NC_000005.8:g.37031317_37031321delinsCTATA	NCBI36
NG_006987.1:g.123576_123580delinsCTATA
NG_006987.2:g.123576_123580delinsCTATA

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3122-164_3122-160delinsCTATA MANE Select	ENSP00000282516.8:n.3122-164_3122-160deli...
ENST00000652901.1:c.3122-164_3122-160delinsCTATA	ENSP00000499536.1:n.3122-164_3122-160deli...
ENST00000282516.12:c.3122-164_3122-160delinsCTATA	ENSP00000282516.8:n.3122-164_3122-160deli...
ENST00000448238.2:c.3122-164_3122-160delinsCTATA	ENSP00000406266.2:n.3122-164_3122-160deli...
ENST00000503274.1:n.309_313delinsCTATA
ENST00000504430.5:n.2742-164_2742-160delinsCTATA
ENST00000621733.1:c.1-69120_1-69116delinsCTATA	ENSP00000480694.1:n.1-69120_1-69116delins...
NM_015384.4:c.3122-164_3122-160delinsCTATA	NP_056199.2:n.3122-164_3122-160delinsCTAT...
NM_133433.3:c.3122-164_3122-160delinsCTATA	NP_597677.2:n.3122-164_3122-160delinsCTAT...
XM_005248280.2:c.3122-164_3122-160delinsCTATA	XP_005248337.1:n.3122-164_3122-160delinsC...
XM_005248282.3:c.2378-164_2378-160delinsCTATA	XP_005248339.2:n.2378-164_2378-160delinsC...
XM_006714467.2:c.3122-164_3122-160delinsCTATA	XP_006714530.1:n.3122-164_3122-160delinsC...
XM_006714468.1:c.3122-164_3122-160delinsCTATA	XP_006714531.1:n.3122-164_3122-160delinsC...
XM_011514014.1:c.3122-5359_3122-5355delinsCTATA	XP_011512316.1:n.3122-5359_3122-5355delin...
XM_011514015.1:c.3122-164_3122-160delinsCTATA	XP_011512317.1:n.3122-164_3122-160delinsC...
XM_005248280.3:c.3122-164_3122-160delinsCTATA	XP_005248337.1:n.3122-164_3122-160delinsC...
XM_005248282.5:c.2462-164_2462-160delinsCTATA	XP_005248339.3:n.2462-164_2462-160delinsC...
XM_006714468.2:c.3122-164_3122-160delinsCTATA	XP_006714531.1:n.3122-164_3122-160delinsC...
XM_017009329.1:c.3122-164_3122-160delinsCTATA	XP_016864818.1:n.3122-164_3122-160delinsC...
XM_017009330.2:c.1505-164_1505-160delinsCTATA	XP_016864819.1:n.1505-164_1505-160delinsC...
XM_017009331.1:c.1496-164_1496-160delinsCTATA	XP_016864820.1:n.1496-164_1496-160delinsC...
NM_133433.4:c.3122-164_3122-160delinsCTATA MANE Select	NP_597677.2:n.3122-164_3122-160delinsCTAT...
NM_015384.5:c.3122-164_3122-160delinsCTATA	NP_056199.2:n.3122-164_3122-160delinsCTAT...