Canonical Allele Identifier: CA1539568710

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049495_37049497delinsGTC , CM000667.2:g.37049495_37049497delinsGTC	GRCh38
NC_000005.9:g.37049597_37049599delinsGTC , CM000667.1:g.37049597_37049599delinsGTC	GRCh37
NC_000005.8:g.37085354_37085356delinsGTC	NCBI36
NG_006987.1:g.177613_177615delinsGTC
NG_006987.2:g.177613_177615delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6954+194_6954+196delinsGTC MANE Select	ENSP00000282516.8:n.6954+194_6954+196delinsGTC
ENST00000652901.1:c.6954+194_6954+196delinsGTC	ENSP00000499536.1:n.6954+194_6954+196delinsGTC
ENST00000282516.12:c.6954+194_6954+196delinsGTC	ENSP00000282516.8:n.6954+194_6954+196delinsGTC
ENST00000448238.2:c.6954+194_6954+196delinsGTC	ENSP00000406266.2:n.6954+194_6954+196delinsGTC
ENST00000621733.1:c.1-15083_1-15081delinsGTC	ENSP00000480694.1:n.1-15083_1-15081delinsGTC
NM_015384.4:c.6954+194_6954+196delinsGTC	NP_056199.2:n.6954+194_6954+196delinsGTC
NM_133433.3:c.6954+194_6954+196delinsGTC	NP_597677.2:n.6954+194_6954+196delinsGTC
XM_005248280.2:c.6954+194_6954+196delinsGTC	XP_005248337.1:n.6954+194_6954+196delinsGTC
XM_005248282.3:c.6210+194_6210+196delinsGTC	XP_005248339.2:n.6210+194_6210+196delinsGTC
XM_006714467.2:c.6954+194_6954+196delinsGTC	XP_006714530.1:n.6954+194_6954+196delinsGTC
XM_006714468.1:c.6756+194_6756+196delinsGTC	XP_006714531.1:n.6756+194_6756+196delinsGTC
XM_011514014.1:c.6573+194_6573+196delinsGTC	XP_011512316.1:n.6573+194_6573+196delinsGTC
XM_011514015.1:c.6954+194_6954+196delinsGTC	XP_011512317.1:n.6954+194_6954+196delinsGTC
XM_005248280.3:c.6954+194_6954+196delinsGTC	XP_005248337.1:n.6954+194_6954+196delinsGTC
XM_005248282.5:c.6294+194_6294+196delinsGTC	XP_005248339.3:n.6294+194_6294+196delinsGTC
XM_006714468.2:c.6756+194_6756+196delinsGTC	XP_006714531.1:n.6756+194_6756+196delinsGTC
XM_017009329.1:c.6954+194_6954+196delinsGTC	XP_016864818.1:n.6954+194_6954+196delinsGTC
XM_017009330.2:c.5337+194_5337+196delinsGTC	XP_016864819.1:n.5337+194_5337+196delinsGTC
XM_017009331.1:c.5328+194_5328+196delinsGTC	XP_016864820.1:n.5328+194_5328+196delinsGTC
NM_133433.4:c.6954+194_6954+196delinsGTC MANE Select	NP_597677.2:n.6954+194_6954+196delinsGTC
NM_015384.5:c.6954+194_6954+196delinsGTC	NP_056199.2:n.6954+194_6954+196delinsGTC