Canonical Allele Identifier: CA2673577302

Gene: NIPBL CPLANE1

Linked Data

• gnomAD v4: 5-37064586-AAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064587_37064589del , CM000667.2:g.37064587_37064589del	GRCh38
NC_000005.9:g.37064689_37064691del , CM000667.1:g.37064689_37064691del	GRCh37
NC_000005.8:g.37100446_37100448del	NCBI36
NG_006987.1:g.192705_192707del
NG_006987.2:g.192705_192707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8110_8112del (NIPBL) MANE Select	ENSP00000282516.8:p.Ser2704del
ENST00000652901.1:c.*54_*56del (NIPBL)	ENSP00000499536.1:n.*54_*56del
ENST00000282516.12:c.8110_8112del (NIPBL)	ENSP00000282516.8:p.Ser2704del
ENST00000514335.1:n.2033_2035del (NIPBL)
ENST00000621733.1:c.10_12del (NIPBL)	ENSP00000480694.1:p.Ser4del
NM_015384.4:c.*564_*566del (NIPBL)	NP_056199.2:n.*564_*566del
NM_133433.3:c.8110_8112del (NIPBL)	NP_597677.2:p.Ser2704del
XM_005248280.2:c.*54_*56del (NIPBL)	XP_005248337.1:n.*54_*56del
XM_005248282.3:c.7366_7368del (NIPBL)	XP_005248339.2:p.Ser2456del
XM_006714467.2:c.7963_7965del (NIPBL)	XP_006714530.1:p.Ser2655del
XM_006714468.1:c.7912_7914del (NIPBL)	XP_006714531.1:p.Ser2638del
XM_011514014.1:c.7729_7731del (NIPBL)	XP_011512316.1:p.Ser2577del
XM_005248280.3:c.*54_*56del (NIPBL)	XP_005248337.1:n.*54_*56del
XM_005248282.5:c.7450_7452del (NIPBL)	XP_005248339.3:p.Ser2484del
XM_006714468.2:c.7912_7914del (NIPBL)	XP_006714531.1:p.Ser2638del
XM_017009329.1:c.*54_*56del (NIPBL)	XP_016864818.1:n.*54_*56del
XM_017009330.2:c.6493_6495del (NIPBL)	XP_016864819.1:p.Ser2165del
XM_017009331.1:c.6484_6486del (NIPBL)	XP_016864820.1:p.Ser2162del
XR_925644.2:n.12093_12095del (CPLANE1)
NM_133433.4:c.8110_8112del (NIPBL) MANE Select	NP_597677.2:p.Ser2704del
NM_015384.5:c.*564_*566del (NIPBL)	NP_056199.2:n.*564_*566del