Canonical Allele Identifier: CA2673575518

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36975640-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36975643del , CM000667.2:g.36975643del	GRCh38
NC_000005.9:g.36975745del , CM000667.1:g.36975745del	GRCh37
NC_000005.8:g.37011502del	NCBI36
NG_006987.1:g.103761del
NG_006987.2:g.103761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.869-133del MANE Select	ENSP00000282516.8:n.869-133del
ENST00000652901.1:c.869-133del	ENSP00000499536.1:n.869-133del
ENST00000282516.12:c.869-133del	ENSP00000282516.8:n.869-133del
ENST00000448238.2:c.869-133del	ENSP00000406266.2:n.869-133del
ENST00000504430.5:n.489-133del
ENST00000505998.5:n.848-133del
ENST00000621733.1:c.1-88935del	ENSP00000480694.1:n.1-88935del
NM_015384.4:c.869-133del	NP_056199.2:n.869-133del
NM_133433.3:c.869-133del	NP_597677.2:n.869-133del
XM_005248280.2:c.869-133del	XP_005248337.1:n.869-133del
XM_005248282.3:c.125-133del	XP_005248339.2:n.125-133del
XM_006714467.2:c.869-133del	XP_006714530.1:n.869-133del
XM_006714468.1:c.869-133del	XP_006714531.1:n.869-133del
XM_011514014.1:c.869-133del	XP_011512316.1:n.869-133del
XM_011514015.1:c.869-133del	XP_011512317.1:n.869-133del
XM_005248280.3:c.869-133del	XP_005248337.1:n.869-133del
XM_005248282.5:c.209-133del	XP_005248339.3:n.209-133del
XM_006714468.2:c.869-133del	XP_006714531.1:n.869-133del
XM_017009329.1:c.869-133del	XP_016864818.1:n.869-133del
XM_017009331.1:c.869-133del	XP_016864820.1:n.869-133del
NM_133433.4:c.869-133del MANE Select	NP_597677.2:n.869-133del
NM_015384.5:c.869-133del	NP_056199.2:n.869-133del