Canonical Allele Identifier: CA1539593181

Gene: NIPBL

Linked Data

• dbSNP Id: rs1746090512
• gnomAD v4: 5-36995905-CTTAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995908_36995911del , CM000667.2:g.36995908_36995911del	GRCh38
NC_000005.9:g.36996010_36996013del , CM000667.1:g.36996010_36996013del	GRCh37
NC_000005.8:g.37031767_37031770del	NCBI36
NG_006987.1:g.124026_124029del
NG_006987.2:g.124026_124029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+104_3304+107del MANE Select	ENSP00000282516.8:n.3304+104_3304+107del
ENST00000652901.1:c.3304+104_3304+107del	ENSP00000499536.1:n.3304+104_3304+107del
ENST00000282516.12:c.3304+104_3304+107del	ENSP00000282516.8:n.3304+104_3304+107del
ENST00000448238.2:c.3304+104_3304+107del	ENSP00000406266.2:n.3304+104_3304+107del
ENST00000503274.1:n.655+104_655+107del
ENST00000504430.5:n.2924+104_2924+107del
ENST00000509429.1:n.55+104_55+107del
ENST00000621733.1:c.1-68670_1-68667del	ENSP00000480694.1:n.1-68670_1-68667del
NM_015384.4:c.3304+104_3304+107del	NP_056199.2:n.3304+104_3304+107del
NM_133433.3:c.3304+104_3304+107del	NP_597677.2:n.3304+104_3304+107del
XM_005248280.2:c.3304+104_3304+107del	XP_005248337.1:n.3304+104_3304+107del
XM_005248282.3:c.2560+104_2560+107del	XP_005248339.2:n.2560+104_2560+107del
XM_006714467.2:c.3304+104_3304+107del	XP_006714530.1:n.3304+104_3304+107del
XM_006714468.1:c.3304+104_3304+107del	XP_006714531.1:n.3304+104_3304+107del
XM_011514014.1:c.3122-4909_3122-4906del	XP_011512316.1:n.3122-4909_3122-4906del
XM_011514015.1:c.3304+104_3304+107del	XP_011512317.1:n.3304+104_3304+107del
XM_005248280.3:c.3304+104_3304+107del	XP_005248337.1:n.3304+104_3304+107del
XM_005248282.5:c.2644+104_2644+107del	XP_005248339.3:n.2644+104_2644+107del
XM_006714468.2:c.3304+104_3304+107del	XP_006714531.1:n.3304+104_3304+107del
XM_017009329.1:c.3304+104_3304+107del	XP_016864818.1:n.3304+104_3304+107del
XM_017009330.2:c.1687+104_1687+107del	XP_016864819.1:n.1687+104_1687+107del
XM_017009331.1:c.1678+104_1678+107del	XP_016864820.1:n.1678+104_1678+107del
NM_133433.4:c.3304+104_3304+107del MANE Select	NP_597677.2:n.3304+104_3304+107del
NM_015384.5:c.3304+104_3304+107del	NP_056199.2:n.3304+104_3304+107del