Canonical Allele Identifier: CA1075102447

Gene: NIPBL

Linked Data

• dbSNP Id: rs376839773
• gnomAD v3: 5-36876823-T-TCC
• gnomAD v4: 5-36876823-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36876828_36876829dup , CM000667.2:g.36876828_36876829dup	GRCh38
NC_000005.9:g.36876930_36876931dup , CM000667.1:g.36876930_36876931dup	GRCh37
NC_000005.8:g.36912687_36912688dup	NCBI36
NG_006987.1:g.4946_4947dup
NG_006987.2:g.4946_4947dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.-430_-429dup MANE Select	ENSP00000282516.8:n.-430_-429dup
ENST00000282516.12:c.-430_-429dup	ENSP00000282516.8:n.-430_-429dup
ENST00000448238.2:c.-430_-429dup	ENSP00000406266.2:n.-430_-429dup
NM_015384.4:c.-430_-429dup	NP_056199.2:n.-430_-429dup
NM_133433.3:c.-430_-429dup	NP_597677.2:n.-430_-429dup
XM_005248280.2:c.-430_-429dup	XP_005248337.1:n.-430_-429dup
XM_006714467.2:c.-430_-429dup	XP_006714530.1:n.-430_-429dup
XM_006714468.1:c.-430_-429dup	XP_006714531.1:n.-430_-429dup
XM_011514014.1:c.-430_-429dup	XP_011512316.1:n.-430_-429dup
XM_011514015.1:c.-430_-429dup	XP_011512317.1:n.-430_-429dup
XM_005248280.3:c.-430_-429dup	XP_005248337.1:n.-430_-429dup
XM_006714468.2:c.-430_-429dup	XP_006714531.1:n.-430_-429dup
XM_017009329.1:c.-430_-429dup	XP_016864818.1:n.-430_-429dup
XM_017009331.1:c.-430_-429dup	XP_016864820.1:n.-430_-429dup
NM_133433.4:c.-430_-429dup MANE Select	NP_597677.2:n.-430_-429dup
NM_015384.5:c.-430_-429dup	NP_056199.2:n.-430_-429dup