Canonical Allele Identifier: CA2695204244

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995672_36995684del , CM000667.2:g.36995672_36995684del	GRCh38
NC_000005.9:g.36995774_36995786del , CM000667.1:g.36995774_36995786del	GRCh37
NC_000005.8:g.37031531_37031543del	NCBI36
NG_006987.1:g.123790_123802del
NG_006987.2:g.123790_123802del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3172_3184del MANE Select	ENSP00000282516.8:p.Glu1058ProfsTer8
ENST00000652901.1:c.3172_3184del	ENSP00000499536.1:p.Glu1058ProfsTer8
ENST00000282516.12:c.3172_3184del	ENSP00000282516.8:p.Glu1058ProfsTer8
ENST00000448238.2:c.3172_3184del	ENSP00000406266.2:p.Glu1058ProfsTer8
ENST00000503274.1:n.523_535del
ENST00000504430.5:n.2792_2804del
ENST00000621733.1:c.1-68906_1-68894del	ENSP00000480694.1:n.1-68906_1-68894del
NM_015384.4:c.3172_3184del	NP_056199.2:p.Glu1058ProfsTer8
NM_133433.3:c.3172_3184del	NP_597677.2:p.Glu1058ProfsTer8
XM_005248280.2:c.3172_3184del	XP_005248337.1:p.Glu1058ProfsTer8
XM_005248282.3:c.2428_2440del	XP_005248339.2:p.Glu810ProfsTer8
XM_006714467.2:c.3172_3184del	XP_006714530.1:p.Glu1058ProfsTer8
XM_006714468.1:c.3172_3184del	XP_006714531.1:p.Glu1058ProfsTer8
XM_011514014.1:c.3122-5145_3122-5133del	XP_011512316.1:n.3122-5145_3122-5133del
XM_011514015.1:c.3172_3184del	XP_011512317.1:p.Glu1058ProfsTer8
XM_005248280.3:c.3172_3184del	XP_005248337.1:p.Glu1058ProfsTer8
XM_005248282.5:c.2512_2524del	XP_005248339.3:p.Glu838ProfsTer8
XM_006714468.2:c.3172_3184del	XP_006714531.1:p.Glu1058ProfsTer8
XM_017009329.1:c.3172_3184del	XP_016864818.1:p.Glu1058ProfsTer8
XM_017009330.2:c.1555_1567del	XP_016864819.1:p.Glu519ProfsTer8
XM_017009331.1:c.1546_1558del	XP_016864820.1:p.Glu516ProfsTer8
NM_133433.4:c.3172_3184del MANE Select	NP_597677.2:p.Glu1058ProfsTer8
NM_015384.5:c.3172_3184del	NP_056199.2:p.Glu1058ProfsTer8