Canonical Allele Identifier: CA2697547118

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2742379
• ClinVar RCV Id: RCV003497602

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36953715del , CM000667.2:g.36953715del	GRCh38
NC_000005.9:g.36953817del , CM000667.1:g.36953817del	GRCh37
NC_000005.8:g.36989574del	NCBI36
NG_006987.1:g.81833del
NG_006987.2:g.81833del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.19del MANE Select	ENSP00000282516.8:p.His7MetfsTer17
ENST00000652901.1:c.19del	ENSP00000499536.1:p.His7MetfsTer17
ENST00000282516.12:c.19del	ENSP00000282516.8:p.His7MetfsTer17
ENST00000448238.2:c.19del	ENSP00000406266.2:p.His7MetfsTer17
ENST00000621733.1:c.-1+76693del	ENSP00000480694.1:n.-1+76693del
NM_015384.4:c.19del	NP_056199.2:p.His7MetfsTer17
NM_133433.3:c.19del	NP_597677.2:p.His7MetfsTer17
XM_005248280.2:c.19del	XP_005248337.1:p.His7MetfsTer17
XM_006714467.2:c.19del	XP_006714530.1:p.His7MetfsTer17
XM_006714468.1:c.19del	XP_006714531.1:p.His7MetfsTer17
XM_011514014.1:c.19del	XP_011512316.1:p.His7MetfsTer17
XM_011514015.1:c.19del	XP_011512317.1:p.His7MetfsTer17
XM_005248280.3:c.19del	XP_005248337.1:p.His7MetfsTer17
XM_006714468.2:c.19del	XP_006714531.1:p.His7MetfsTer17
XM_017009329.1:c.19del	XP_016864818.1:p.His7MetfsTer17
XM_017009331.1:c.19del	XP_016864820.1:p.His7MetfsTer17
NM_133433.4:c.19del MANE Select	NP_597677.2:p.His7MetfsTer17
NM_015384.5:c.19del	NP_056199.2:p.His7MetfsTer17