Canonical Allele Identifier: CA559295293

Gene: NIPBL

Linked Data

• gnomAD v2: 5-37045719-A-AT
• MyVariant Identifiers: chr5:g.37045719_37045720insT (hg19) ; chr5:g.37045617_37045618insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045617_37045618insT , CM000667.2:g.37045617_37045618insT	GRCh38
NC_000005.9:g.37045719_37045720insT , CM000667.1:g.37045719_37045720insT	GRCh37
NC_000005.8:g.37081476_37081477insT	NCBI36
NG_006987.1:g.173735_173736insT
NG_006987.2:g.173735_173736insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6498+20_6498+21insT MANE Select	ENSP00000282516.8:n.6498+20_6498+21insT
ENST00000652901.1:c.6498+20_6498+21insT	ENSP00000499536.1:n.6498+20_6498+21insT
ENST00000282516.12:c.6498+20_6498+21insT	ENSP00000282516.8:n.6498+20_6498+21insT
ENST00000448238.2:c.6498+20_6498+21insT	ENSP00000406266.2:n.6498+20_6498+21insT
ENST00000621733.1:c.1-18961_1-18960insT	ENSP00000480694.1:n.1-18961_1-18960insT
NM_015384.4:c.6498+20_6498+21insT	NP_056199.2:n.6498+20_6498+21insT
NM_133433.3:c.6498+20_6498+21insT	NP_597677.2:n.6498+20_6498+21insT
XM_005248280.2:c.6498+20_6498+21insT	XP_005248337.1:n.6498+20_6498+21insT
XM_005248282.3:c.5754+20_5754+21insT	XP_005248339.2:n.5754+20_5754+21insT
XM_006714467.2:c.6498+20_6498+21insT	XP_006714530.1:n.6498+20_6498+21insT
XM_006714468.1:c.6300+20_6300+21insT	XP_006714531.1:n.6300+20_6300+21insT
XM_011514014.1:c.6117+20_6117+21insT	XP_011512316.1:n.6117+20_6117+21insT
XM_011514015.1:c.6498+20_6498+21insT	XP_011512317.1:n.6498+20_6498+21insT
XM_005248280.3:c.6498+20_6498+21insT	XP_005248337.1:n.6498+20_6498+21insT
XM_005248282.5:c.5838+20_5838+21insT	XP_005248339.3:n.5838+20_5838+21insT
XM_006714468.2:c.6300+20_6300+21insT	XP_006714531.1:n.6300+20_6300+21insT
XM_017009329.1:c.6498+20_6498+21insT	XP_016864818.1:n.6498+20_6498+21insT
XM_017009330.2:c.4881+20_4881+21insT	XP_016864819.1:n.4881+20_4881+21insT
XM_017009331.1:c.4872+20_4872+21insT	XP_016864820.1:n.4872+20_4872+21insT
NM_133433.4:c.6498+20_6498+21insT MANE Select	NP_597677.2:n.6498+20_6498+21insT
NM_015384.5:c.6498+20_6498+21insT	NP_056199.2:n.6498+20_6498+21insT