Canonical Allele Identifier: CA2673573037

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36876825-CCCCCGCCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36876830_36876838del , CM000667.2:g.36876830_36876838del	GRCh38
NC_000005.9:g.36876932_36876940del , CM000667.1:g.36876932_36876940del	GRCh37
NC_000005.8:g.36912689_36912697del	NCBI36
NG_006987.1:g.4948_4956del
NG_006987.2:g.4948_4956del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.-428_-420del MANE Select	ENSP00000282516.8:n.-428_-420del
ENST00000282516.12:c.-428_-420del	ENSP00000282516.8:n.-428_-420del
ENST00000448238.2:c.-428_-420del	ENSP00000406266.2:n.-428_-420del
NM_015384.4:c.-428_-420del	NP_056199.2:n.-428_-420del
NM_133433.3:c.-428_-420del	NP_597677.2:n.-428_-420del
XM_005248280.2:c.-428_-420del	XP_005248337.1:n.-428_-420del
XM_006714467.2:c.-428_-420del	XP_006714530.1:n.-428_-420del
XM_006714468.1:c.-428_-420del	XP_006714531.1:n.-428_-420del
XM_011514014.1:c.-428_-420del	XP_011512316.1:n.-428_-420del
XM_011514015.1:c.-428_-420del	XP_011512317.1:n.-428_-420del
XM_005248280.3:c.-428_-420del	XP_005248337.1:n.-428_-420del
XM_006714468.2:c.-428_-420del	XP_006714531.1:n.-428_-420del
XM_017009329.1:c.-428_-420del	XP_016864818.1:n.-428_-420del
XM_017009331.1:c.-428_-420del	XP_016864820.1:n.-428_-420del
NM_133433.4:c.-428_-420del MANE Select	NP_597677.2:n.-428_-420del
NM_015384.5:c.-428_-420del	NP_056199.2:n.-428_-420del