Canonical Allele Identifier: CA1539592887

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995752_36995753delinsAT , CM000667.2:g.36995752_36995753delinsAT	GRCh38
NC_000005.9:g.36995854_36995855delinsAT , CM000667.1:g.36995854_36995855delinsAT	GRCh37
NC_000005.8:g.37031611_37031612delinsAT	NCBI36
NG_006987.1:g.123870_123871delinsAT
NG_006987.2:g.123870_123871delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3252_3253delinsAT MANE Select	ENSP00000282516.8:p.Lys1084=
ENST00000652901.1:c.3252_3253delinsAT	ENSP00000499536.1:p.Lys1084=
ENST00000282516.12:c.3252_3253delinsAT	ENSP00000282516.8:p.Lys1084=
ENST00000448238.2:c.3252_3253delinsAT	ENSP00000406266.2:p.Lys1084=
ENST00000503274.1:n.603_604delinsAT
ENST00000504430.5:n.2872_2873delinsAT
ENST00000509429.1:n.3_4delinsAT
ENST00000621733.1:c.1-68826_1-68825delinsAT	ENSP00000480694.1:n.1-68826_1-68825delinsAT
NM_015384.4:c.3252_3253delinsAT	NP_056199.2:p.Lys1084=
NM_133433.3:c.3252_3253delinsAT	NP_597677.2:p.Lys1084=
XM_005248280.2:c.3252_3253delinsAT	XP_005248337.1:p.Lys1084=
XM_005248282.3:c.2508_2509delinsAT	XP_005248339.2:p.Lys836=
XM_006714467.2:c.3252_3253delinsAT	XP_006714530.1:p.Lys1084=
XM_006714468.1:c.3252_3253delinsAT	XP_006714531.1:p.Lys1084=
XM_011514014.1:c.3122-5065_3122-5064delinsAT	XP_011512316.1:n.3122-5065_3122-5064delinsAT
XM_011514015.1:c.3252_3253delinsAT	XP_011512317.1:p.Lys1084=
XM_005248280.3:c.3252_3253delinsAT	XP_005248337.1:p.Lys1084=
XM_005248282.5:c.2592_2593delinsAT	XP_005248339.3:p.Lys864=
XM_006714468.2:c.3252_3253delinsAT	XP_006714531.1:p.Lys1084=
XM_017009329.1:c.3252_3253delinsAT	XP_016864818.1:p.Lys1084=
XM_017009330.2:c.1635_1636delinsAT	XP_016864819.1:p.Lys545=
XM_017009331.1:c.1626_1627delinsAT	XP_016864820.1:p.Lys542=
NM_133433.4:c.3252_3253delinsAT MANE Select	NP_597677.2:p.Lys1084=
NM_015384.5:c.3252_3253delinsAT	NP_056199.2:p.Lys1084=