Canonical Allele Identifier: CA2983484592

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045591_37045597del , CM000667.2:g.37045591_37045597del	GRCh38
NC_000005.9:g.37045693_37045699del , CM000667.1:g.37045693_37045699del	GRCh37
NC_000005.8:g.37081450_37081456del	NCBI36
NG_006987.1:g.173709_173715del
NG_006987.2:g.173709_173715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6492_6498del MANE Select	ENSP00000282516.8:p.Asn2164LysfsTer4
ENST00000652901.1:c.6492_6498del	ENSP00000499536.1:p.Asn2164LysfsTer4
ENST00000282516.12:c.6492_6498del	ENSP00000282516.8:p.Asn2164LysfsTer4
ENST00000448238.2:c.6492_6498del	ENSP00000406266.2:p.Asn2164LysfsTer4
ENST00000621733.1:c.1-18987_1-18981del	ENSP00000480694.1:n.1-18987_1-18981del
NM_015384.4:c.6492_6498del	NP_056199.2:p.Asn2164LysfsTer4
NM_133433.3:c.6492_6498del	NP_597677.2:p.Asn2164LysfsTer4
XM_005248280.2:c.6492_6498del	XP_005248337.1:p.Asn2164LysfsTer4
XM_005248282.3:c.5748_5754del	XP_005248339.2:p.Asn1916LysfsTer4
XM_006714467.2:c.6492_6498del	XP_006714530.1:p.Asn2164LysfsTer4
XM_006714468.1:c.6294_6300del	XP_006714531.1:p.Asn2098LysfsTer4
XM_011514014.1:c.6111_6117del	XP_011512316.1:p.Asn2037LysfsTer4
XM_011514015.1:c.6492_6498del	XP_011512317.1:p.Asn2164LysfsTer4
XM_005248280.3:c.6492_6498del	XP_005248337.1:p.Asn2164LysfsTer4
XM_005248282.5:c.5832_5838del	XP_005248339.3:p.Asn1944LysfsTer4
XM_006714468.2:c.6294_6300del	XP_006714531.1:p.Asn2098LysfsTer4
XM_017009329.1:c.6492_6498del	XP_016864818.1:p.Asn2164LysfsTer4
XM_017009330.2:c.4875_4881del	XP_016864819.1:p.Asn1625LysfsTer4
XM_017009331.1:c.4866_4872del	XP_016864820.1:p.Asn1622LysfsTer4
NM_133433.4:c.6492_6498del MANE Select	NP_597677.2:p.Asn2164LysfsTer4
NM_015384.5:c.6492_6498del	NP_056199.2:p.Asn2164LysfsTer4