Canonical Allele Identifier: CA2765897863

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985395_36985396insCACACCCAACAC , CM000667.2:g.36985395_36985396insCACACCCAACAC	GRCh38
NC_000005.9:g.36985497_36985498insCACACCCAACAC , CM000667.1:g.36985497_36985498insCACACCCAACAC	GRCh37
NC_000005.8:g.37021254_37021255insCACACCCAACAC	NCBI36
NG_006987.1:g.113513_113514insCACACCCAACAC
NG_006987.2:g.113513_113514insCACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2215_2216insCACACCCAACAC MANE Select	ENSP00000282516.8:p.Lys739delinsThrHisProThrGln
ENST00000652901.1:c.2215_2216insCACACCCAACAC	ENSP00000499536.1:p.Lys739delinsThrHisProThrGln
ENST00000282516.12:c.2215_2216insCACACCCAACAC	ENSP00000282516.8:p.Lys739delinsThrHisProThrGln
ENST00000448238.2:c.2215_2216insCACACCCAACAC	ENSP00000406266.2:p.Lys739delinsThrHisProThrGln
ENST00000504430.5:n.1835_1836insCACACCCAACAC
ENST00000621733.1:c.1-79183_1-79182insCACACCCAACAC	ENSP00000480694.1:n.1-79183_1-79182insCACACCCAACAC
NM_015384.4:c.2215_2216insCACACCCAACAC	NP_056199.2:p.Lys739delinsThrHisProThrGln
NM_133433.3:c.2215_2216insCACACCCAACAC	NP_597677.2:p.Lys739delinsThrHisProThrGln
XM_005248280.2:c.2215_2216insCACACCCAACAC	XP_005248337.1:p.Lys739delinsThrHisProThrGln
XM_005248282.3:c.1471_1472insCACACCCAACAC	XP_005248339.2:p.Lys491delinsThrHisProThrGln
XM_006714467.2:c.2215_2216insCACACCCAACAC	XP_006714530.1:p.Lys739delinsThrHisProThrGln
XM_006714468.1:c.2215_2216insCACACCCAACAC	XP_006714531.1:p.Lys739delinsThrHisProThrGln
XM_011514014.1:c.2215_2216insCACACCCAACAC	XP_011512316.1:p.Lys739delinsThrHisProThrGln
XM_011514015.1:c.2215_2216insCACACCCAACAC	XP_011512317.1:p.Lys739delinsThrHisProThrGln
XM_005248280.3:c.2215_2216insCACACCCAACAC	XP_005248337.1:p.Lys739delinsThrHisProThrGln
XM_005248282.5:c.1555_1556insCACACCCAACAC	XP_005248339.3:p.Lys519delinsThrHisProThrGln
XM_006714468.2:c.2215_2216insCACACCCAACAC	XP_006714531.1:p.Lys739delinsThrHisProThrGln
XM_017009329.1:c.2215_2216insCACACCCAACAC	XP_016864818.1:p.Lys739delinsThrHisProThrGln
XM_017009330.2:c.598_599insCACACCCAACAC	XP_016864819.1:p.Lys200delinsThrHisProThrGln
XM_017009331.1:c.1495+8993_1495+8994insCACACCCAACAC	XP_016864820.1:n.1495+8993_1495+8994insCACACCCAACAC
NM_133433.4:c.2215_2216insCACACCCAACAC MANE Select	NP_597677.2:p.Lys739delinsThrHisProThrGln
NM_015384.5:c.2215_2216insCACACCCAACAC	NP_056199.2:p.Lys739delinsThrHisProThrGln