Canonical Allele Identifier: CA2983484582

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020625_37020626insAGAG , CM000667.2:g.37020625_37020626insAGAG	GRCh38
NC_000005.9:g.37020727_37020728insAGAG , CM000667.1:g.37020727_37020728insAGAG	GRCh37
NC_000005.8:g.37056484_37056485insAGAG	NCBI36
NG_006987.1:g.148743_148744insAGAG
NG_006987.2:g.148743_148744insAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5177_5178insAGAG MANE Select	ENSP00000282516.8:p.Phe1726LeufsTer4
ENST00000652901.1:c.5177_5178insAGAG	ENSP00000499536.1:p.Phe1726LeufsTer4
ENST00000282516.12:c.5177_5178insAGAG	ENSP00000282516.8:p.Phe1726LeufsTer4
ENST00000448238.2:c.5177_5178insAGAG	ENSP00000406266.2:p.Phe1726LeufsTer4
ENST00000621733.1:c.1-43953_1-43952insAGAG	ENSP00000480694.1:n.1-43953_1-43952insAGAG
NM_015384.4:c.5177_5178insAGAG	NP_056199.2:p.Phe1726LeufsTer4
NM_133433.3:c.5177_5178insAGAG	NP_597677.2:p.Phe1726LeufsTer4
XM_005248280.2:c.5177_5178insAGAG	XP_005248337.1:p.Phe1726LeufsTer4
XM_005248282.3:c.4433_4434insAGAG	XP_005248339.2:p.Phe1478LeufsTer4
XM_006714467.2:c.5177_5178insAGAG	XP_006714530.1:p.Phe1726LeufsTer4
XM_006714468.1:c.4979_4980insAGAG	XP_006714531.1:p.Phe1660LeufsTer4
XM_011514014.1:c.4796_4797insAGAG	XP_011512316.1:p.Phe1599LeufsTer4
XM_011514015.1:c.5177_5178insAGAG	XP_011512317.1:p.Phe1726LeufsTer4
XM_005248280.3:c.5177_5178insAGAG	XP_005248337.1:p.Phe1726LeufsTer4
XM_005248282.5:c.4517_4518insAGAG	XP_005248339.3:p.Phe1506LeufsTer4
XM_006714468.2:c.4979_4980insAGAG	XP_006714531.1:p.Phe1660LeufsTer4
XM_017009329.1:c.5177_5178insAGAG	XP_016864818.1:p.Phe1726LeufsTer4
XM_017009330.2:c.3560_3561insAGAG	XP_016864819.1:p.Phe1187LeufsTer4
XM_017009331.1:c.3551_3552insAGAG	XP_016864820.1:p.Phe1184LeufsTer4
NM_133433.4:c.5177_5178insAGAG MANE Select	NP_597677.2:p.Phe1726LeufsTer4
NM_015384.5:c.5177_5178insAGAG	NP_056199.2:p.Phe1726LeufsTer4