Canonical Allele Identifier: CA2573139633

Gene: NIPBL CPLANE1

Linked Data

• ClinVar Variation Id: 1687333
• ClinVar RCV Id: RCV002251015
• dbSNP Id: rs2149761324

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064867_37064873del , CM000667.2:g.37064867_37064873del	GRCh38
NC_000005.9:g.37064969_37064975del , CM000667.1:g.37064969_37064975del	GRCh37
NC_000005.8:g.37100726_37100732del	NCBI36
NG_006987.1:g.192985_192991del
NG_006987.2:g.192985_192991del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.8390_8396del (NIPBL) MANE Select	ENSP00000282516.8:p.Ala2797GlyfsTer26
ENST00000652901.1:c.*334_*340del (NIPBL)	ENSP00000499536.1:n.*334_*340del
ENST00000282516.12:c.8390_8396del (NIPBL)	ENSP00000282516.8:p.Ala2797GlyfsTer26
ENST00000514335.1:n.2313_2319del (NIPBL)
ENST00000621733.1:c.290_296del (NIPBL)	ENSP00000480694.1:p.Ala97GlyfsTer26
NM_015384.4:c.*844_*850del (NIPBL)	NP_056199.2:n.*844_*850del
NM_133433.3:c.8390_8396del (NIPBL)	NP_597677.2:p.Ala2797GlyfsTer26
XM_005248280.2:c.*334_*340del (NIPBL)	XP_005248337.1:n.*334_*340del
XM_005248282.3:c.7646_7652del (NIPBL)	XP_005248339.2:p.Ala2549GlyfsTer26
XM_006714467.2:c.8243_8249del (NIPBL)	XP_006714530.1:p.Ala2748GlyfsTer26
XM_006714468.1:c.8192_8198del (NIPBL)	XP_006714531.1:p.Ala2731GlyfsTer26
XM_011514014.1:c.8009_8015del (NIPBL)	XP_011512316.1:p.Ala2670GlyfsTer26
XM_005248280.3:c.*334_*340del (NIPBL)	XP_005248337.1:n.*334_*340del
XM_005248282.5:c.7730_7736del (NIPBL)	XP_005248339.3:p.Ala2577GlyfsTer26
XM_006714468.2:c.8192_8198del (NIPBL)	XP_006714531.1:p.Ala2731GlyfsTer26
XM_017009329.1:c.*334_*340del (NIPBL)	XP_016864818.1:n.*334_*340del
XM_017009330.2:c.6773_6779del (NIPBL)	XP_016864819.1:p.Ala2258GlyfsTer26
XM_017009331.1:c.6764_6770del (NIPBL)	XP_016864820.1:p.Ala2255GlyfsTer26
XR_925644.2:n.11809_11815del (CPLANE1)
NM_133433.4:c.8390_8396del (NIPBL) MANE Select	NP_597677.2:p.Ala2797GlyfsTer26
NM_015384.5:c.*844_*850del (NIPBL)	NP_056199.2:n.*844_*850del