Canonical Allele Identifier: CA2695204229

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985802_36985803del , CM000667.2:g.36985802_36985803del	GRCh38
NC_000005.9:g.36985904_36985905del , CM000667.1:g.36985904_36985905del	GRCh37
NC_000005.8:g.37021661_37021662del	NCBI36
NG_006987.1:g.113920_113921del
NG_006987.2:g.113920_113921del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2622_2623del MANE Select	ENSP00000282516.8:p.Asp876LeufsTer15
ENST00000652901.1:c.2622_2623del	ENSP00000499536.1:p.Asp876LeufsTer15
ENST00000282516.12:c.2622_2623del	ENSP00000282516.8:p.Asp876LeufsTer15
ENST00000448238.2:c.2622_2623del	ENSP00000406266.2:p.Asp876LeufsTer15
ENST00000504430.5:n.2242_2243del
ENST00000621733.1:c.1-78776_1-78775del	ENSP00000480694.1:n.1-78776_1-78775del
NM_015384.4:c.2622_2623del	NP_056199.2:p.Asp876LeufsTer15
NM_133433.3:c.2622_2623del	NP_597677.2:p.Asp876LeufsTer15
XM_005248280.2:c.2622_2623del	XP_005248337.1:p.Asp876LeufsTer15
XM_005248282.3:c.1878_1879del	XP_005248339.2:p.Asp628LeufsTer15
XM_006714467.2:c.2622_2623del	XP_006714530.1:p.Asp876LeufsTer15
XM_006714468.1:c.2622_2623del	XP_006714531.1:p.Asp876LeufsTer15
XM_011514014.1:c.2622_2623del	XP_011512316.1:p.Asp876LeufsTer15
XM_011514015.1:c.2622_2623del	XP_011512317.1:p.Asp876LeufsTer15
XM_005248280.3:c.2622_2623del	XP_005248337.1:p.Asp876LeufsTer15
XM_005248282.5:c.1962_1963del	XP_005248339.3:p.Asp656LeufsTer15
XM_006714468.2:c.2622_2623del	XP_006714531.1:p.Asp876LeufsTer15
XM_017009329.1:c.2622_2623del	XP_016864818.1:p.Asp876LeufsTer15
XM_017009330.2:c.1005_1006del	XP_016864819.1:p.Asp337LeufsTer15
XM_017009331.1:c.1495+9400_1495+9401del	XP_016864820.1:n.1495+9400_1495+9401del
NM_133433.4:c.2622_2623del MANE Select	NP_597677.2:p.Asp876LeufsTer15
NM_015384.5:c.2622_2623del	NP_056199.2:p.Asp876LeufsTer15