Canonical Allele Identifier: CA1075102668

Gene: NIPBL

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36876835_36876842dup , CM000667.2:g.36876835_36876842dup	GRCh38
NC_000005.9:g.36876937_36876944dup , CM000667.1:g.36876937_36876944dup	GRCh37
NC_000005.8:g.36912694_36912701dup	NCBI36
NG_006987.1:g.4953_4960dup
NG_006987.2:g.4953_4960dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.-423_-416dup MANE Select	ENSP00000282516.8:n.-423_-416dup
ENST00000282516.12:c.-423_-416dup	ENSP00000282516.8:n.-423_-416dup
ENST00000448238.2:c.-423_-416dup	ENSP00000406266.2:n.-423_-416dup
NM_015384.4:c.-423_-416dup	NP_056199.2:n.-423_-416dup
NM_133433.3:c.-423_-416dup	NP_597677.2:n.-423_-416dup
XM_005248280.2:c.-423_-416dup	XP_005248337.1:n.-423_-416dup
XM_006714467.2:c.-423_-416dup	XP_006714530.1:n.-423_-416dup
XM_006714468.1:c.-423_-416dup	XP_006714531.1:n.-423_-416dup
XM_011514014.1:c.-423_-416dup	XP_011512316.1:n.-423_-416dup
XM_011514015.1:c.-423_-416dup	XP_011512317.1:n.-423_-416dup
XM_005248280.3:c.-423_-416dup	XP_005248337.1:n.-423_-416dup
XM_006714468.2:c.-423_-416dup	XP_006714531.1:n.-423_-416dup
XM_017009329.1:c.-423_-416dup	XP_016864818.1:n.-423_-416dup
XM_017009331.1:c.-423_-416dup	XP_016864820.1:n.-423_-416dup
NM_133433.4:c.-423_-416dup MANE Select	NP_597677.2:n.-423_-416dup
NM_015384.5:c.-423_-416dup	NP_056199.2:n.-423_-416dup