Canonical Allele Identifier: CA1075102675

Gene: NIPBL

Linked Data

• dbSNP Id: rs886060553
• gnomAD v3: 5-36876834-T-TCCCCCCCCCCC
• gnomAD v4: 5-36876834-T-TCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36876842_36876843insCCCCCCCCCCC , CM000667.2:g.36876842_36876843insCCCCCCCCCCC	GRCh38
NC_000005.9:g.36876944_36876945insCCCCCCCCCCC , CM000667.1:g.36876944_36876945insCCCCCCCCCCC	GRCh37
NC_000005.8:g.36912701_36912702insCCCCCCCCCCC	NCBI36
NG_006987.1:g.4960_4961insCCCCCCCCCCC
NG_006987.2:g.4960_4961insCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.-416_-415insCCCCCCCCCCC MANE Select	ENSP00000282516.8:n.-416_-415insCCCCCCCCCCC
ENST00000282516.12:c.-416_-415insCCCCCCCCCCC	ENSP00000282516.8:n.-416_-415insCCCCCCCCCCC
ENST00000448238.2:c.-416_-415insCCCCCCCCCCC	ENSP00000406266.2:n.-416_-415insCCCCCCCCCCC
NM_015384.4:c.-416_-415insCCCCCCCCCCC	NP_056199.2:n.-416_-415insCCCCCCCCCCC
NM_133433.3:c.-416_-415insCCCCCCCCCCC	NP_597677.2:n.-416_-415insCCCCCCCCCCC
XM_005248280.2:c.-416_-415insCCCCCCCCCCC	XP_005248337.1:n.-416_-415insCCCCCCCCCCC
XM_006714467.2:c.-416_-415insCCCCCCCCCCC	XP_006714530.1:n.-416_-415insCCCCCCCCCCC
XM_006714468.1:c.-416_-415insCCCCCCCCCCC	XP_006714531.1:n.-416_-415insCCCCCCCCCCC
XM_011514014.1:c.-416_-415insCCCCCCCCCCC	XP_011512316.1:n.-416_-415insCCCCCCCCCCC
XM_011514015.1:c.-416_-415insCCCCCCCCCCC	XP_011512317.1:n.-416_-415insCCCCCCCCCCC
XM_005248280.3:c.-416_-415insCCCCCCCCCCC	XP_005248337.1:n.-416_-415insCCCCCCCCCCC
XM_006714468.2:c.-416_-415insCCCCCCCCCCC	XP_006714531.1:n.-416_-415insCCCCCCCCCCC
XM_017009329.1:c.-416_-415insCCCCCCCCCCC	XP_016864818.1:n.-416_-415insCCCCCCCCCCC
XM_017009331.1:c.-416_-415insCCCCCCCCCCC	XP_016864820.1:n.-416_-415insCCCCCCCCCCC
NM_133433.4:c.-416_-415insCCCCCCCCCCC MANE Select	NP_597677.2:n.-416_-415insCCCCCCCCCCC
NM_015384.5:c.-416_-415insCCCCCCCCCCC	NP_056199.2:n.-416_-415insCCCCCCCCCCC