Canonical Allele Identifier: CA1539577911

Gene: NIPBL

Linked Data

• dbSNP Id: rs1741170351
• gnomAD v4: 5-36957999-AAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958000_36958002del , CM000667.2:g.36958000_36958002del	GRCh38
NC_000005.9:g.36958102_36958104del , CM000667.1:g.36958102_36958104del	GRCh37
NC_000005.8:g.36993859_36993861del	NCBI36
NG_006987.1:g.86118_86120del
NG_006987.2:g.86118_86120del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.231-104_231-102del MANE Select	ENSP00000282516.8:n.231-104_231-102del
ENST00000652901.1:c.231-104_231-102del	ENSP00000499536.1:n.231-104_231-102del
ENST00000282516.12:c.231-104_231-102del	ENSP00000282516.8:n.231-104_231-102del
ENST00000448238.2:c.231-104_231-102del	ENSP00000406266.2:n.231-104_231-102del
ENST00000505998.5:n.210-104_210-102del
ENST00000621733.1:c.-1+80978_-1+80980del	ENSP00000480694.1:n.-1+80978_-1+80980del
NM_015384.4:c.231-104_231-102del	NP_056199.2:n.231-104_231-102del
NM_133433.3:c.231-104_231-102del	NP_597677.2:n.231-104_231-102del
XM_005248280.2:c.231-104_231-102del	XP_005248337.1:n.231-104_231-102del
XM_006714467.2:c.231-104_231-102del	XP_006714530.1:n.231-104_231-102del
XM_006714468.1:c.231-104_231-102del	XP_006714531.1:n.231-104_231-102del
XM_011514014.1:c.231-104_231-102del	XP_011512316.1:n.231-104_231-102del
XM_011514015.1:c.231-104_231-102del	XP_011512317.1:n.231-104_231-102del
XM_005248280.3:c.231-104_231-102del	XP_005248337.1:n.231-104_231-102del
XM_006714468.2:c.231-104_231-102del	XP_006714531.1:n.231-104_231-102del
XM_017009329.1:c.231-104_231-102del	XP_016864818.1:n.231-104_231-102del
XM_017009331.1:c.231-104_231-102del	XP_016864820.1:n.231-104_231-102del
NM_133433.4:c.231-104_231-102del MANE Select	NP_597677.2:n.231-104_231-102del
NM_015384.5:c.231-104_231-102del	NP_056199.2:n.231-104_231-102del