Canonical Allele Identifier: CA2552127512

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36976302_36976303insACGTCA , CM000667.2:g.36976302_36976303insACGTCA	GRCh38
NC_000005.9:g.36976404_36976405insACGTCA , CM000667.1:g.36976404_36976405insACGTCA	GRCh37
NC_000005.8:g.37012161_37012162insACGTCA	NCBI36
NG_006987.1:g.104420_104421insACGTCA
NG_006987.2:g.104420_104421insACGTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1395_1396insACGTCA MANE Select	ENSP00000282516.8:p.Ile465_Tyr466insThrSer
ENST00000652901.1:c.1395_1396insACGTCA	ENSP00000499536.1:p.Ile465_Tyr466insThrSer
ENST00000282516.12:c.1395_1396insACGTCA	ENSP00000282516.8:p.Ile465_Tyr466insThrSer
ENST00000448238.2:c.1395_1396insACGTCA	ENSP00000406266.2:p.Ile465_Tyr466insThrSer
ENST00000504430.5:n.1015_1016insACGTCA
ENST00000621733.1:c.1-88276_1-88275insACGTCA	ENSP00000480694.1:n.1-88276_1-88275insACGTCA
NM_015384.4:c.1395_1396insACGTCA	NP_056199.2:p.Ile465_Tyr466insThrSer
NM_133433.3:c.1395_1396insACGTCA	NP_597677.2:p.Ile465_Tyr466insThrSer
XM_005248280.2:c.1395_1396insACGTCA	XP_005248337.1:p.Ile465_Tyr466insThrSer
XM_005248282.3:c.651_652insACGTCA	XP_005248339.2:p.Ile217_Tyr218insThrSer
XM_006714467.2:c.1395_1396insACGTCA	XP_006714530.1:p.Ile465_Tyr466insThrSer
XM_006714468.1:c.1395_1396insACGTCA	XP_006714531.1:p.Ile465_Tyr466insThrSer
XM_011514014.1:c.1395_1396insACGTCA	XP_011512316.1:p.Ile465_Tyr466insThrSer
XM_011514015.1:c.1395_1396insACGTCA	XP_011512317.1:p.Ile465_Tyr466insThrSer
XM_005248280.3:c.1395_1396insACGTCA	XP_005248337.1:p.Ile465_Tyr466insThrSer
XM_005248282.5:c.735_736insACGTCA	XP_005248339.3:p.Ile245_Tyr246insThrSer
XM_006714468.2:c.1395_1396insACGTCA	XP_006714531.1:p.Ile465_Tyr466insThrSer
XM_017009329.1:c.1395_1396insACGTCA	XP_016864818.1:p.Ile465_Tyr466insThrSer
XM_017009331.1:c.1395_1396insACGTCA	XP_016864820.1:p.Ile465_Tyr466insThrSer
NM_133433.4:c.1395_1396insACGTCA MANE Select	NP_597677.2:p.Ile465_Tyr466insThrSer
NM_015384.5:c.1395_1396insACGTCA	NP_056199.2:p.Ile465_Tyr466insThrSer