Canonical Allele Identifier: CA3235788

Gene: NIPBL

Linked Data

• dbSNP Id: rs749869538
• ExAC: 5:36958349 ACT / A
• MyVariant Identifiers: chr5:g.36958350_36958351del (hg19) ; chr5:g.36958248_36958249del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958248_36958249del , CM000667.2:g.36958248_36958249del	GRCh38
NC_000005.9:g.36958350_36958351del , CM000667.1:g.36958350_36958351del	GRCh37
NC_000005.8:g.36994107_36994108del	NCBI36
NG_006987.1:g.86366_86367del
NG_006987.2:g.86366_86367del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.358+17_358+18del MANE Select	ENSP00000282516.8:n.358+17_358+18del
ENST00000652901.1:c.358+17_358+18del	ENSP00000499536.1:n.358+17_358+18del
ENST00000282516.12:c.358+17_358+18del	ENSP00000282516.8:n.358+17_358+18del
ENST00000448238.2:c.358+17_358+18del	ENSP00000406266.2:n.358+17_358+18del
ENST00000505998.5:n.337+17_337+18del
ENST00000621733.1:c.-1+81226_-1+81227del	ENSP00000480694.1:n.-1+81226_-1+81227del
NM_015384.4:c.358+17_358+18del	NP_056199.2:n.358+17_358+18del
NM_133433.3:c.358+17_358+18del	NP_597677.2:n.358+17_358+18del
XM_005248280.2:c.358+17_358+18del	XP_005248337.1:n.358+17_358+18del
XM_006714467.2:c.358+17_358+18del	XP_006714530.1:n.358+17_358+18del
XM_006714468.1:c.358+17_358+18del	XP_006714531.1:n.358+17_358+18del
XM_011514014.1:c.358+17_358+18del	XP_011512316.1:n.358+17_358+18del
XM_011514015.1:c.358+17_358+18del	XP_011512317.1:n.358+17_358+18del
XM_005248280.3:c.358+17_358+18del	XP_005248337.1:n.358+17_358+18del
XM_006714468.2:c.358+17_358+18del	XP_006714531.1:n.358+17_358+18del
XM_017009329.1:c.358+17_358+18del	XP_016864818.1:n.358+17_358+18del
XM_017009331.1:c.358+17_358+18del	XP_016864820.1:n.358+17_358+18del
NM_133433.4:c.358+17_358+18del MANE Select	NP_597677.2:n.358+17_358+18del
NM_015384.5:c.358+17_358+18del	NP_056199.2:n.358+17_358+18del