Canonical Allele Identifier: CA1539599785

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995528_36995530delinsCAA , CM000667.2:g.36995528_36995530delinsCAA	GRCh38
NC_000005.9:g.36995630_36995632delinsCAA , CM000667.1:g.36995630_36995632delinsCAA	GRCh37
NC_000005.8:g.37031387_37031389delinsCAA	NCBI36
NG_006987.1:g.123646_123648delinsCAA
NG_006987.2:g.123646_123648delinsCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3122-94_3122-92delinsCAA MANE Select	ENSP00000282516.8:n.3122-94_3122-92delins...
ENST00000652901.1:c.3122-94_3122-92delinsCAA	ENSP00000499536.1:n.3122-94_3122-92delins...
ENST00000282516.12:c.3122-94_3122-92delinsCAA	ENSP00000282516.8:n.3122-94_3122-92delins...
ENST00000448238.2:c.3122-94_3122-92delinsCAA	ENSP00000406266.2:n.3122-94_3122-92delins...
ENST00000503274.1:n.379_381delinsCAA
ENST00000504430.5:n.2742-94_2742-92delinsCAA
ENST00000621733.1:c.1-69050_1-69048delinsCAA	ENSP00000480694.1:n.1-69050_1-69048delins...
NM_015384.4:c.3122-94_3122-92delinsCAA	NP_056199.2:n.3122-94_3122-92delinsCAA
NM_133433.3:c.3122-94_3122-92delinsCAA	NP_597677.2:n.3122-94_3122-92delinsCAA
XM_005248280.2:c.3122-94_3122-92delinsCAA	XP_005248337.1:n.3122-94_3122-92delinsCAA...
XM_005248282.3:c.2378-94_2378-92delinsCAA	XP_005248339.2:n.2378-94_2378-92delinsCAA...
XM_006714467.2:c.3122-94_3122-92delinsCAA	XP_006714530.1:n.3122-94_3122-92delinsCAA...
XM_006714468.1:c.3122-94_3122-92delinsCAA	XP_006714531.1:n.3122-94_3122-92delinsCAA...
XM_011514014.1:c.3122-5289_3122-5287delinsCAA	XP_011512316.1:n.3122-5289_3122-5287delin...
XM_011514015.1:c.3122-94_3122-92delinsCAA	XP_011512317.1:n.3122-94_3122-92delinsCAA...
XM_005248280.3:c.3122-94_3122-92delinsCAA	XP_005248337.1:n.3122-94_3122-92delinsCAA...
XM_005248282.5:c.2462-94_2462-92delinsCAA	XP_005248339.3:n.2462-94_2462-92delinsCAA...
XM_006714468.2:c.3122-94_3122-92delinsCAA	XP_006714531.1:n.3122-94_3122-92delinsCAA...
XM_017009329.1:c.3122-94_3122-92delinsCAA	XP_016864818.1:n.3122-94_3122-92delinsCAA...
XM_017009330.2:c.1505-94_1505-92delinsCAA	XP_016864819.1:n.1505-94_1505-92delinsCAA...
XM_017009331.1:c.1496-94_1496-92delinsCAA	XP_016864820.1:n.1496-94_1496-92delinsCAA...
NM_133433.4:c.3122-94_3122-92delinsCAA MANE Select	NP_597677.2:n.3122-94_3122-92delinsCAA
NM_015384.5:c.3122-94_3122-92delinsCAA	NP_056199.2:n.3122-94_3122-92delinsCAA