Canonical Allele Identifier: CA2580073200

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1709803
• ClinVar RCV Id: RCV002290145

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958145_36958153del , CM000667.2:g.36958145_36958153del	GRCh38
NC_000005.9:g.36958247_36958255del , CM000667.1:g.36958247_36958255del	GRCh37
NC_000005.8:g.36994004_36994012del	NCBI36
NG_006987.1:g.86263_86271del
NG_006987.2:g.86263_86271del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.272_280del MANE Select	ENSP00000282516.8:p.Asp91_Pro93del
ENST00000652901.1:c.272_280del	ENSP00000499536.1:p.Asp91_Pro93del
ENST00000282516.12:c.272_280del	ENSP00000282516.8:p.Asp91_Pro93del
ENST00000448238.2:c.272_280del	ENSP00000406266.2:p.Asp91_Pro93del
ENST00000505998.5:n.251_259del
ENST00000621733.1:c.-1+81123_-1+81131del	ENSP00000480694.1:n.-1+81123_-1+81131del
NM_015384.4:c.272_280del	NP_056199.2:p.Asp91_Pro93del
NM_133433.3:c.272_280del	NP_597677.2:p.Asp91_Pro93del
XM_005248280.2:c.272_280del	XP_005248337.1:p.Asp91_Pro93del
XM_006714467.2:c.272_280del	XP_006714530.1:p.Asp91_Pro93del
XM_006714468.1:c.272_280del	XP_006714531.1:p.Asp91_Pro93del
XM_011514014.1:c.272_280del	XP_011512316.1:p.Asp91_Pro93del
XM_011514015.1:c.272_280del	XP_011512317.1:p.Asp91_Pro93del
XM_005248280.3:c.272_280del	XP_005248337.1:p.Asp91_Pro93del
XM_006714468.2:c.272_280del	XP_006714531.1:p.Asp91_Pro93del
XM_017009329.1:c.272_280del	XP_016864818.1:p.Asp91_Pro93del
XM_017009331.1:c.272_280del	XP_016864820.1:p.Asp91_Pro93del
NM_133433.4:c.272_280del MANE Select	NP_597677.2:p.Asp91_Pro93del
NM_015384.5:c.272_280del	NP_056199.2:p.Asp91_Pro93del