Canonical Allele Identifier: CA2765898396

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020888_37020889insGC , CM000667.2:g.37020888_37020889insGC	GRCh38
NC_000005.9:g.37020990_37020991insGC , CM000667.1:g.37020990_37020991insGC	GRCh37
NC_000005.8:g.37056747_37056748insGC	NCBI36
NG_006987.1:g.149006_149007insGC
NG_006987.2:g.149006_149007insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5328+11_5328+12insGC MANE Select	ENSP00000282516.8:n.5328+11_5328+12insGC
ENST00000652901.1:c.5328+11_5328+12insGC	ENSP00000499536.1:n.5328+11_5328+12insGC
ENST00000282516.12:c.5328+11_5328+12insGC	ENSP00000282516.8:n.5328+11_5328+12insGC
ENST00000448238.2:c.5328+11_5328+12insGC	ENSP00000406266.2:n.5328+11_5328+12insGC
ENST00000621733.1:c.1-43690_1-43689insGC	ENSP00000480694.1:n.1-43690_1-43689insGC
NM_015384.4:c.5328+11_5328+12insGC	NP_056199.2:n.5328+11_5328+12insGC
NM_133433.3:c.5328+11_5328+12insGC	NP_597677.2:n.5328+11_5328+12insGC
XM_005248280.2:c.5328+11_5328+12insGC	XP_005248337.1:n.5328+11_5328+12insGC
XM_005248282.3:c.4584+11_4584+12insGC	XP_005248339.2:n.4584+11_4584+12insGC
XM_006714467.2:c.5328+11_5328+12insGC	XP_006714530.1:n.5328+11_5328+12insGC
XM_006714468.1:c.5130+11_5130+12insGC	XP_006714531.1:n.5130+11_5130+12insGC
XM_011514014.1:c.4947+11_4947+12insGC	XP_011512316.1:n.4947+11_4947+12insGC
XM_011514015.1:c.5328+11_5328+12insGC	XP_011512317.1:n.5328+11_5328+12insGC
XM_005248280.3:c.5328+11_5328+12insGC	XP_005248337.1:n.5328+11_5328+12insGC
XM_005248282.5:c.4668+11_4668+12insGC	XP_005248339.3:n.4668+11_4668+12insGC
XM_006714468.2:c.5130+11_5130+12insGC	XP_006714531.1:n.5130+11_5130+12insGC
XM_017009329.1:c.5328+11_5328+12insGC	XP_016864818.1:n.5328+11_5328+12insGC
XM_017009330.2:c.3711+11_3711+12insGC	XP_016864819.1:n.3711+11_3711+12insGC
XM_017009331.1:c.3702+11_3702+12insGC	XP_016864820.1:n.3702+11_3702+12insGC
NM_133433.4:c.5328+11_5328+12insGC MANE Select	NP_597677.2:n.5328+11_5328+12insGC
NM_015384.5:c.5328+11_5328+12insGC	NP_056199.2:n.5328+11_5328+12insGC