Canonical Allele Identifier: CA1539599463

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995399_36995401delinsCAT , CM000667.2:g.36995399_36995401delinsCAT	GRCh38
NC_000005.9:g.36995501_36995503delinsCAT , CM000667.1:g.36995501_36995503delinsCAT	GRCh37
NC_000005.8:g.37031258_37031260delinsCAT	NCBI36
NG_006987.1:g.123517_123519delinsCAT
NG_006987.2:g.123517_123519delinsCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3122-223_3122-221delinsCAT MANE Select	ENSP00000282516.8:n.3122-223_3122-221deli...
ENST00000652901.1:c.3122-223_3122-221delinsCAT	ENSP00000499536.1:n.3122-223_3122-221deli...
ENST00000282516.12:c.3122-223_3122-221delinsCAT	ENSP00000282516.8:n.3122-223_3122-221deli...
ENST00000448238.2:c.3122-223_3122-221delinsCAT	ENSP00000406266.2:n.3122-223_3122-221deli...
ENST00000503274.1:n.250_252delinsCAT
ENST00000504430.5:n.2742-223_2742-221delinsCAT
ENST00000621733.1:c.1-69179_1-69177delinsCAT	ENSP00000480694.1:n.1-69179_1-69177delins...
NM_015384.4:c.3122-223_3122-221delinsCAT	NP_056199.2:n.3122-223_3122-221delinsCAT
NM_133433.3:c.3122-223_3122-221delinsCAT	NP_597677.2:n.3122-223_3122-221delinsCAT
XM_005248280.2:c.3122-223_3122-221delinsCAT	XP_005248337.1:n.3122-223_3122-221delinsC...
XM_005248282.3:c.2378-223_2378-221delinsCAT	XP_005248339.2:n.2378-223_2378-221delinsC...
XM_006714467.2:c.3122-223_3122-221delinsCAT	XP_006714530.1:n.3122-223_3122-221delinsC...
XM_006714468.1:c.3122-223_3122-221delinsCAT	XP_006714531.1:n.3122-223_3122-221delinsC...
XM_011514014.1:c.3122-5418_3122-5416delinsCAT	XP_011512316.1:n.3122-5418_3122-5416delin...
XM_011514015.1:c.3122-223_3122-221delinsCAT	XP_011512317.1:n.3122-223_3122-221delinsC...
XM_005248280.3:c.3122-223_3122-221delinsCAT	XP_005248337.1:n.3122-223_3122-221delinsC...
XM_005248282.5:c.2462-223_2462-221delinsCAT	XP_005248339.3:n.2462-223_2462-221delinsC...
XM_006714468.2:c.3122-223_3122-221delinsCAT	XP_006714531.1:n.3122-223_3122-221delinsC...
XM_017009329.1:c.3122-223_3122-221delinsCAT	XP_016864818.1:n.3122-223_3122-221delinsC...
XM_017009330.2:c.1505-223_1505-221delinsCAT	XP_016864819.1:n.1505-223_1505-221delinsC...
XM_017009331.1:c.1496-223_1496-221delinsCAT	XP_016864820.1:n.1496-223_1496-221delinsC...
NM_133433.4:c.3122-223_3122-221delinsCAT MANE Select	NP_597677.2:n.3122-223_3122-221delinsCAT
NM_015384.5:c.3122-223_3122-221delinsCAT	NP_056199.2:n.3122-223_3122-221delinsCAT