Canonical Allele Identifier: CA2673575524

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36975655-GATTATATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36975659_36975666del , CM000667.2:g.36975659_36975666del	GRCh38
NC_000005.9:g.36975761_36975768del , CM000667.1:g.36975761_36975768del	GRCh37
NC_000005.8:g.37011518_37011525del	NCBI36
NG_006987.1:g.103777_103784del
NG_006987.2:g.103777_103784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.869-117_869-110del MANE Select	ENSP00000282516.8:n.869-117_869-110del
ENST00000652901.1:c.869-117_869-110del	ENSP00000499536.1:n.869-117_869-110del
ENST00000282516.12:c.869-117_869-110del	ENSP00000282516.8:n.869-117_869-110del
ENST00000448238.2:c.869-117_869-110del	ENSP00000406266.2:n.869-117_869-110del
ENST00000504430.5:n.489-117_489-110del
ENST00000505998.5:n.848-117_848-110del
ENST00000621733.1:c.1-88919_1-88912del	ENSP00000480694.1:n.1-88919_1-88912del
NM_015384.4:c.869-117_869-110del	NP_056199.2:n.869-117_869-110del
NM_133433.3:c.869-117_869-110del	NP_597677.2:n.869-117_869-110del
XM_005248280.2:c.869-117_869-110del	XP_005248337.1:n.869-117_869-110del
XM_005248282.3:c.125-117_125-110del	XP_005248339.2:n.125-117_125-110del
XM_006714467.2:c.869-117_869-110del	XP_006714530.1:n.869-117_869-110del
XM_006714468.1:c.869-117_869-110del	XP_006714531.1:n.869-117_869-110del
XM_011514014.1:c.869-117_869-110del	XP_011512316.1:n.869-117_869-110del
XM_011514015.1:c.869-117_869-110del	XP_011512317.1:n.869-117_869-110del
XM_005248280.3:c.869-117_869-110del	XP_005248337.1:n.869-117_869-110del
XM_005248282.5:c.209-117_209-110del	XP_005248339.3:n.209-117_209-110del
XM_006714468.2:c.869-117_869-110del	XP_006714531.1:n.869-117_869-110del
XM_017009329.1:c.869-117_869-110del	XP_016864818.1:n.869-117_869-110del
XM_017009331.1:c.869-117_869-110del	XP_016864820.1:n.869-117_869-110del
NM_133433.4:c.869-117_869-110del MANE Select	NP_597677.2:n.869-117_869-110del
NM_015384.5:c.869-117_869-110del	NP_056199.2:n.869-117_869-110del