Canonical Allele Identifier: CA2673575538

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36975671-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36975678del , CM000667.2:g.36975678del	GRCh38
NC_000005.9:g.36975780del , CM000667.1:g.36975780del	GRCh37
NC_000005.8:g.37011537del	NCBI36
NG_006987.1:g.103796del
NG_006987.2:g.103796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.869-98del MANE Select	ENSP00000282516.8:n.869-98del
ENST00000652901.1:c.869-98del	ENSP00000499536.1:n.869-98del
ENST00000282516.12:c.869-98del	ENSP00000282516.8:n.869-98del
ENST00000448238.2:c.869-98del	ENSP00000406266.2:n.869-98del
ENST00000504430.5:n.489-98del
ENST00000505998.5:n.848-98del
ENST00000621733.1:c.1-88900del	ENSP00000480694.1:n.1-88900del
NM_015384.4:c.869-98del	NP_056199.2:n.869-98del
NM_133433.3:c.869-98del	NP_597677.2:n.869-98del
XM_005248280.2:c.869-98del	XP_005248337.1:n.869-98del
XM_005248282.3:c.125-98del	XP_005248339.2:n.125-98del
XM_006714467.2:c.869-98del	XP_006714530.1:n.869-98del
XM_006714468.1:c.869-98del	XP_006714531.1:n.869-98del
XM_011514014.1:c.869-98del	XP_011512316.1:n.869-98del
XM_011514015.1:c.869-98del	XP_011512317.1:n.869-98del
XM_005248280.3:c.869-98del	XP_005248337.1:n.869-98del
XM_005248282.5:c.209-98del	XP_005248339.3:n.209-98del
XM_006714468.2:c.869-98del	XP_006714531.1:n.869-98del
XM_017009329.1:c.869-98del	XP_016864818.1:n.869-98del
XM_017009331.1:c.869-98del	XP_016864820.1:n.869-98del
NM_133433.4:c.869-98del MANE Select	NP_597677.2:n.869-98del
NM_015384.5:c.869-98del	NP_056199.2:n.869-98del