Canonical Allele Identifier: CA810305989

Gene: NIPBL

Linked Data

• dbSNP Id: rs1391102777
• gnomAD v3: 5-37049509-C-CT
• gnomAD v4: 5-37049509-C-CT
• MyVariant Identifiers: chr5:g.37049611_37049612insT (hg19) ; chr5:g.37049509_37049510insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049511dup , CM000667.2:g.37049511dup	GRCh38
NC_000005.9:g.37049613dup , CM000667.1:g.37049613dup	GRCh37
NC_000005.8:g.37085370dup	NCBI36
NG_006987.1:g.177629dup
NG_006987.2:g.177629dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6954+210dup MANE Select	ENSP00000282516.8:n.6954+210dup
ENST00000652901.1:c.6954+210dup	ENSP00000499536.1:n.6954+210dup
ENST00000282516.12:c.6954+210dup	ENSP00000282516.8:n.6954+210dup
ENST00000448238.2:c.6954+210dup	ENSP00000406266.2:n.6954+210dup
ENST00000621733.1:c.1-15067dup	ENSP00000480694.1:n.1-15067dup
NM_015384.4:c.6954+210dup	NP_056199.2:n.6954+210dup
NM_133433.3:c.6954+210dup	NP_597677.2:n.6954+210dup
XM_005248280.2:c.6954+210dup	XP_005248337.1:n.6954+210dup
XM_005248282.3:c.6210+210dup	XP_005248339.2:n.6210+210dup
XM_006714467.2:c.6954+210dup	XP_006714530.1:n.6954+210dup
XM_006714468.1:c.6756+210dup	XP_006714531.1:n.6756+210dup
XM_011514014.1:c.6573+210dup	XP_011512316.1:n.6573+210dup
XM_011514015.1:c.6954+210dup	XP_011512317.1:n.6954+210dup
XM_005248280.3:c.6954+210dup	XP_005248337.1:n.6954+210dup
XM_005248282.5:c.6294+210dup	XP_005248339.3:n.6294+210dup
XM_006714468.2:c.6756+210dup	XP_006714531.1:n.6756+210dup
XM_017009329.1:c.6954+210dup	XP_016864818.1:n.6954+210dup
XM_017009330.2:c.5337+210dup	XP_016864819.1:n.5337+210dup
XM_017009331.1:c.5328+210dup	XP_016864820.1:n.5328+210dup
NM_133433.4:c.6954+210dup MANE Select	NP_597677.2:n.6954+210dup
NM_015384.5:c.6954+210dup	NP_056199.2:n.6954+210dup