Canonical Allele Identifier: CA2673582103

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36985666-A-ATTC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985666_36985667insTTC , CM000667.2:g.36985666_36985667insTTC	GRCh38
NC_000005.9:g.36985768_36985769insTTC , CM000667.1:g.36985768_36985769insTTC	GRCh37
NC_000005.8:g.37021525_37021526insTTC	NCBI36
NG_006987.1:g.113784_113785insTTC
NG_006987.2:g.113784_113785insTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2486_2487insTTC MANE Select	ENSP00000282516.8:p.Glu829delinsAspSer
ENST00000652901.1:c.2486_2487insTTC	ENSP00000499536.1:p.Glu829delinsAspSer
ENST00000282516.12:c.2486_2487insTTC	ENSP00000282516.8:p.Glu829delinsAspSer
ENST00000448238.2:c.2486_2487insTTC	ENSP00000406266.2:p.Glu829delinsAspSer
ENST00000504430.5:n.2106_2107insTTC
ENST00000621733.1:c.1-78912_1-78911insTTC	ENSP00000480694.1:n.1-78912_1-78911insTTC
NM_015384.4:c.2486_2487insTTC	NP_056199.2:p.Glu829delinsAspSer
NM_133433.3:c.2486_2487insTTC	NP_597677.2:p.Glu829delinsAspSer
XM_005248280.2:c.2486_2487insTTC	XP_005248337.1:p.Glu829delinsAspSer
XM_005248282.3:c.1742_1743insTTC	XP_005248339.2:p.Glu581delinsAspSer
XM_006714467.2:c.2486_2487insTTC	XP_006714530.1:p.Glu829delinsAspSer
XM_006714468.1:c.2486_2487insTTC	XP_006714531.1:p.Glu829delinsAspSer
XM_011514014.1:c.2486_2487insTTC	XP_011512316.1:p.Glu829delinsAspSer
XM_011514015.1:c.2486_2487insTTC	XP_011512317.1:p.Glu829delinsAspSer
XM_005248280.3:c.2486_2487insTTC	XP_005248337.1:p.Glu829delinsAspSer
XM_005248282.5:c.1826_1827insTTC	XP_005248339.3:p.Glu609delinsAspSer
XM_006714468.2:c.2486_2487insTTC	XP_006714531.1:p.Glu829delinsAspSer
XM_017009329.1:c.2486_2487insTTC	XP_016864818.1:p.Glu829delinsAspSer
XM_017009330.2:c.869_870insTTC	XP_016864819.1:p.Glu290delinsAspSer
XM_017009331.1:c.1495+9264_1495+9265insTTC	XP_016864820.1:n.1495+9264_1495+9265insTTC
NM_133433.4:c.2486_2487insTTC MANE Select	NP_597677.2:p.Glu829delinsAspSer
NM_015384.5:c.2486_2487insTTC	NP_056199.2:p.Glu829delinsAspSer