Canonical Allele Identifier: CA2595469982

Gene: NIPBL

Linked Data

• gnomAD v3: 5-37010093-CAGT-C
• gnomAD v4: 5-37010093-CAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37010097_37010099del , CM000667.2:g.37010097_37010099del	GRCh38
NC_000005.9:g.37010199_37010201del , CM000667.1:g.37010199_37010201del	GRCh37
NC_000005.8:g.37045956_37045958del	NCBI36
NG_006987.1:g.138215_138217del
NG_006987.2:g.138215_138217del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.4432_4434del MANE Select	ENSP00000282516.8:p.Ser1478del
ENST00000652901.1:c.4432_4434del	ENSP00000499536.1:p.Ser1478del
ENST00000282516.12:c.4432_4434del	ENSP00000282516.8:p.Ser1478del
ENST00000448238.2:c.4432_4434del	ENSP00000406266.2:p.Ser1478del
ENST00000621733.1:c.1-54481_1-54479del	ENSP00000480694.1:n.1-54481_1-54479del
NM_015384.4:c.4432_4434del	NP_056199.2:p.Ser1478del
NM_133433.3:c.4432_4434del	NP_597677.2:p.Ser1478del
XM_005248280.2:c.4432_4434del	XP_005248337.1:p.Ser1478del
XM_005248282.3:c.3688_3690del	XP_005248339.2:p.Ser1230del
XM_006714467.2:c.4432_4434del	XP_006714530.1:p.Ser1478del
XM_006714468.1:c.4234_4236del	XP_006714531.1:p.Ser1412del
XM_011514014.1:c.4051_4053del	XP_011512316.1:p.Ser1351del
XM_011514015.1:c.4432_4434del	XP_011512317.1:p.Ser1478del
XM_005248280.3:c.4432_4434del	XP_005248337.1:p.Ser1478del
XM_005248282.5:c.3772_3774del	XP_005248339.3:p.Ser1258del
XM_006714468.2:c.4234_4236del	XP_006714531.1:p.Ser1412del
XM_017009329.1:c.4432_4434del	XP_016864818.1:p.Ser1478del
XM_017009330.2:c.2815_2817del	XP_016864819.1:p.Ser939del
XM_017009331.1:c.2806_2808del	XP_016864820.1:p.Ser936del
NM_133433.4:c.4432_4434del MANE Select	NP_597677.2:p.Ser1478del
NM_015384.5:c.4432_4434del	NP_056199.2:p.Ser1478del