Canonical Allele Identifier: CA2673573145

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2983731
• ClinVar RCV Id: RCV003840826
• gnomAD v4: 5-36876936-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36876943del , CM000667.2:g.36876943del	GRCh38
NC_000005.9:g.36877045del , CM000667.1:g.36877045del	GRCh37
NC_000005.8:g.36912802del	NCBI36
NG_006987.1:g.5061del
NG_006987.2:g.5061del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.-315del MANE Select	ENSP00000282516.8:n.-315del
ENST00000652901.1:c.-315del	ENSP00000499536.1:n.-315del
ENST00000282516.12:c.-315del	ENSP00000282516.8:n.-315del
ENST00000448238.2:c.-315del	ENSP00000406266.2:n.-315del
NM_015384.4:c.-315del	NP_056199.2:n.-315del
NM_133433.3:c.-315del	NP_597677.2:n.-315del
XM_005248280.2:c.-315del	XP_005248337.1:n.-315del
XM_006714467.2:c.-315del	XP_006714530.1:n.-315del
XM_006714468.1:c.-315del	XP_006714531.1:n.-315del
XM_011514014.1:c.-315del	XP_011512316.1:n.-315del
XM_011514015.1:c.-315del	XP_011512317.1:n.-315del
XM_005248280.3:c.-315del	XP_005248337.1:n.-315del
XM_006714468.2:c.-315del	XP_006714531.1:n.-315del
XM_017009329.1:c.-315del	XP_016864818.1:n.-315del
XM_017009331.1:c.-315del	XP_016864820.1:n.-315del
NM_133433.4:c.-315del MANE Select	NP_597677.2:n.-315del
NM_015384.5:c.-315del	NP_056199.2:n.-315del