Canonical Allele Identifier: CA2740097839

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051874_37051876del , CM000667.2:g.37051874_37051876del	GRCh38
NC_000005.9:g.37051976_37051978del , CM000667.1:g.37051976_37051978del	GRCh37
NC_000005.8:g.37087733_37087735del	NCBI36
NG_006987.1:g.179992_179994del
NG_006987.2:g.179992_179994del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7050_7052del MANE Select	ENSP00000282516.8:p.Gly2351del
ENST00000652901.1:c.7050_7052del	ENSP00000499536.1:p.Gly2351del
ENST00000282516.12:c.7050_7052del	ENSP00000282516.8:p.Gly2351del
ENST00000448238.2:c.7050_7052del	ENSP00000406266.2:p.Gly2351del
ENST00000514335.1:n.932_934del
ENST00000621733.1:c.1-12704_1-12702del	ENSP00000480694.1:n.1-12704_1-12702del
NM_015384.4:c.7050_7052del	NP_056199.2:p.Gly2351del
NM_133433.3:c.7050_7052del	NP_597677.2:p.Gly2351del
XM_005248280.2:c.7050_7052del	XP_005248337.1:p.Gly2351del
XM_005248282.3:c.6306_6308del	XP_005248339.2:p.Gly2103del
XM_006714467.2:c.7050_7052del	XP_006714530.1:p.Gly2351del
XM_006714468.1:c.6852_6854del	XP_006714531.1:p.Gly2285del
XM_011514014.1:c.6669_6671del	XP_011512316.1:p.Gly2224del
XM_011514015.1:c.7050_7052del	XP_011512317.1:p.Gly2351del
XM_005248280.3:c.7050_7052del	XP_005248337.1:p.Gly2351del
XM_005248282.5:c.6390_6392del	XP_005248339.3:p.Gly2131del
XM_006714468.2:c.6852_6854del	XP_006714531.1:p.Gly2285del
XM_017009329.1:c.7050_7052del	XP_016864818.1:p.Gly2351del
XM_017009330.2:c.5433_5435del	XP_016864819.1:p.Gly1812del
XM_017009331.1:c.5424_5426del	XP_016864820.1:p.Gly1809del
NM_133433.4:c.7050_7052del MANE Select	NP_597677.2:p.Gly2351del
NM_015384.5:c.7050_7052del	NP_056199.2:p.Gly2351del