Canonical Allele Identifier: CA2673573049

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36876826-C-CGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36876826_36876827insGGGGGGGGG , CM000667.2:g.36876826_36876827insGGGGGGGGG	GRCh38
NC_000005.9:g.36876928_36876929insGGGGGGGGG , CM000667.1:g.36876928_36876929insGGGGGGGGG	GRCh37
NC_000005.8:g.36912685_36912686insGGGGGGGGG	NCBI36
NG_006987.1:g.4944_4945insGGGGGGGGG
NG_006987.2:g.4944_4945insGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.-432_-431insGGGGGGGGG MANE Select	ENSP00000282516.8:n.-432_-431insGGGGGGGGG
ENST00000282516.12:c.-432_-431insGGGGGGGGG	ENSP00000282516.8:n.-432_-431insGGGGGGGGG
ENST00000448238.2:c.-432_-431insGGGGGGGGG	ENSP00000406266.2:n.-432_-431insGGGGGGGGG
NM_015384.4:c.-432_-431insGGGGGGGGG	NP_056199.2:n.-432_-431insGGGGGGGGG
NM_133433.3:c.-432_-431insGGGGGGGGG	NP_597677.2:n.-432_-431insGGGGGGGGG
XM_005248280.2:c.-432_-431insGGGGGGGGG	XP_005248337.1:n.-432_-431insGGGGGGGGG
XM_006714467.2:c.-432_-431insGGGGGGGGG	XP_006714530.1:n.-432_-431insGGGGGGGGG
XM_006714468.1:c.-432_-431insGGGGGGGGG	XP_006714531.1:n.-432_-431insGGGGGGGGG
XM_011514014.1:c.-432_-431insGGGGGGGGG	XP_011512316.1:n.-432_-431insGGGGGGGGG
XM_011514015.1:c.-432_-431insGGGGGGGGG	XP_011512317.1:n.-432_-431insGGGGGGGGG
XM_005248280.3:c.-432_-431insGGGGGGGGG	XP_005248337.1:n.-432_-431insGGGGGGGGG
XM_006714468.2:c.-432_-431insGGGGGGGGG	XP_006714531.1:n.-432_-431insGGGGGGGGG
XM_017009329.1:c.-432_-431insGGGGGGGGG	XP_016864818.1:n.-432_-431insGGGGGGGGG
XM_017009331.1:c.-432_-431insGGGGGGGGG	XP_016864820.1:n.-432_-431insGGGGGGGGG
NM_133433.4:c.-432_-431insGGGGGGGGG MANE Select	NP_597677.2:n.-432_-431insGGGGGGGGG
NM_015384.5:c.-432_-431insGGGGGGGGG	NP_056199.2:n.-432_-431insGGGGGGGGG