Canonical Allele Identifier: CA1075102514

Gene: NIPBL

Linked Data

• gnomAD v3: 5-36876823-T-TCCCCCCCCCCCCCCC
• gnomAD v4: 5-36876823-T-TCCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36876829_36876830insCCCCCCCCCCCCCCC , CM000667.2:g.36876829_36876830insCCCCCCCCCCCCCCC	GRCh38
NC_000005.9:g.36876931_36876932insCCCCCCCCCCCCCCC , CM000667.1:g.36876931_36876932insCCCCCCCCCCCCCCC	GRCh37
NC_000005.8:g.36912688_36912689insCCCCCCCCCCCCCCC	NCBI36
NG_006987.1:g.4947_4948insCCCCCCCCCCCCCCC
NG_006987.2:g.4947_4948insCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.-429_-428insCCCCCCCCCCCCCCC MANE Select	ENSP00000282516.8:n.-429_-428insCCCCCCCCCCCCCCC
ENST00000282516.12:c.-429_-428insCCCCCCCCCCCCCCC	ENSP00000282516.8:n.-429_-428insCCCCCCCCCCCCCCC
ENST00000448238.2:c.-429_-428insCCCCCCCCCCCCCCC	ENSP00000406266.2:n.-429_-428insCCCCCCCCCCCCCCC
NM_015384.4:c.-429_-428insCCCCCCCCCCCCCCC	NP_056199.2:n.-429_-428insCCCCCCCCCCCCCCC
NM_133433.3:c.-429_-428insCCCCCCCCCCCCCCC	NP_597677.2:n.-429_-428insCCCCCCCCCCCCCCC
XM_005248280.2:c.-429_-428insCCCCCCCCCCCCCCC	XP_005248337.1:n.-429_-428insCCCCCCCCCCCCCCC
XM_006714467.2:c.-429_-428insCCCCCCCCCCCCCCC	XP_006714530.1:n.-429_-428insCCCCCCCCCCCCCCC
XM_006714468.1:c.-429_-428insCCCCCCCCCCCCCCC	XP_006714531.1:n.-429_-428insCCCCCCCCCCCCCCC
XM_011514014.1:c.-429_-428insCCCCCCCCCCCCCCC	XP_011512316.1:n.-429_-428insCCCCCCCCCCCCCCC
XM_011514015.1:c.-429_-428insCCCCCCCCCCCCCCC	XP_011512317.1:n.-429_-428insCCCCCCCCCCCCCCC
XM_005248280.3:c.-429_-428insCCCCCCCCCCCCCCC	XP_005248337.1:n.-429_-428insCCCCCCCCCCCCCCC
XM_006714468.2:c.-429_-428insCCCCCCCCCCCCCCC	XP_006714531.1:n.-429_-428insCCCCCCCCCCCCCCC
XM_017009329.1:c.-429_-428insCCCCCCCCCCCCCCC	XP_016864818.1:n.-429_-428insCCCCCCCCCCCCCCC
XM_017009331.1:c.-429_-428insCCCCCCCCCCCCCCC	XP_016864820.1:n.-429_-428insCCCCCCCCCCCCCCC
NM_133433.4:c.-429_-428insCCCCCCCCCCCCCCC MANE Select	NP_597677.2:n.-429_-428insCCCCCCCCCCCCCCC
NM_015384.5:c.-429_-428insCCCCCCCCCCCCCCC	NP_056199.2:n.-429_-428insCCCCCCCCCCCCCCC