Canonical Allele Identifier: CA1539619039

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020263_37020268delinsGTAAAA , CM000667.2:g.37020263_37020268delinsGTAAAA	GRCh38
NC_000005.9:g.37020365_37020370delinsGTAAAA , CM000667.1:g.37020365_37020370delinsGTAAAA	GRCh37
NC_000005.8:g.37056122_37056127delinsGTAAAA	NCBI36
NG_006987.1:g.148381_148386delinsGTAAAA
NG_006987.2:g.148381_148386delinsGTAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5011-196_5011-191delinsGTAAAA MANE Select	ENSP00000282516.8:n.5011-196_5011-191delinsGTAAAA
ENST00000652901.1:c.5011-196_5011-191delinsGTAAAA	ENSP00000499536.1:n.5011-196_5011-191delinsGTAAAA
ENST00000282516.12:c.5011-196_5011-191delinsGTAAAA	ENSP00000282516.8:n.5011-196_5011-191delinsGTAAAA
ENST00000448238.2:c.5011-196_5011-191delinsGTAAAA	ENSP00000406266.2:n.5011-196_5011-191delinsGTAAAA
ENST00000621733.1:c.1-44315_1-44310delinsGTAAAA	ENSP00000480694.1:n.1-44315_1-44310delinsGTAAAA
NM_015384.4:c.5011-196_5011-191delinsGTAAAA	NP_056199.2:n.5011-196_5011-191delinsGTAAAA
NM_133433.3:c.5011-196_5011-191delinsGTAAAA	NP_597677.2:n.5011-196_5011-191delinsGTAAAA
XM_005248280.2:c.5011-196_5011-191delinsGTAAAA	XP_005248337.1:n.5011-196_5011-191delinsGTAAAA
XM_005248282.3:c.4267-196_4267-191delinsGTAAAA	XP_005248339.2:n.4267-196_4267-191delinsGTAAAA
XM_006714467.2:c.5011-196_5011-191delinsGTAAAA	XP_006714530.1:n.5011-196_5011-191delinsGTAAAA
XM_006714468.1:c.4813-196_4813-191delinsGTAAAA	XP_006714531.1:n.4813-196_4813-191delinsGTAAAA
XM_011514014.1:c.4630-196_4630-191delinsGTAAAA	XP_011512316.1:n.4630-196_4630-191delinsGTAAAA
XM_011514015.1:c.5011-196_5011-191delinsGTAAAA	XP_011512317.1:n.5011-196_5011-191delinsGTAAAA
XM_005248280.3:c.5011-196_5011-191delinsGTAAAA	XP_005248337.1:n.5011-196_5011-191delinsGTAAAA
XM_005248282.5:c.4351-196_4351-191delinsGTAAAA	XP_005248339.3:n.4351-196_4351-191delinsGTAAAA
XM_006714468.2:c.4813-196_4813-191delinsGTAAAA	XP_006714531.1:n.4813-196_4813-191delinsGTAAAA
XM_017009329.1:c.5011-196_5011-191delinsGTAAAA	XP_016864818.1:n.5011-196_5011-191delinsGTAAAA
XM_017009330.2:c.3394-196_3394-191delinsGTAAAA	XP_016864819.1:n.3394-196_3394-191delinsGTAAAA
XM_017009331.1:c.3385-196_3385-191delinsGTAAAA	XP_016864820.1:n.3385-196_3385-191delinsGTAAAA
NM_133433.4:c.5011-196_5011-191delinsGTAAAA MANE Select	NP_597677.2:n.5011-196_5011-191delinsGTAAAA
NM_015384.5:c.5011-196_5011-191delinsGTAAAA	NP_056199.2:n.5011-196_5011-191delinsGTAAAA