Canonical Allele Identifier: CA2673553082

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37020324-GTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020327_37020329del , CM000667.2:g.37020327_37020329del	GRCh38
NC_000005.9:g.37020429_37020431del , CM000667.1:g.37020429_37020431del	GRCh37
NC_000005.8:g.37056186_37056188del	NCBI36
NG_006987.1:g.148445_148447del
NG_006987.2:g.148445_148447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5011-132_5011-130del MANE Select	ENSP00000282516.8:n.5011-132_5011-130del
ENST00000652901.1:c.5011-132_5011-130del	ENSP00000499536.1:n.5011-132_5011-130del
ENST00000282516.12:c.5011-132_5011-130del	ENSP00000282516.8:n.5011-132_5011-130del
ENST00000448238.2:c.5011-132_5011-130del	ENSP00000406266.2:n.5011-132_5011-130del
ENST00000621733.1:c.1-44251_1-44249del	ENSP00000480694.1:n.1-44251_1-44249del
NM_015384.4:c.5011-132_5011-130del	NP_056199.2:n.5011-132_5011-130del
NM_133433.3:c.5011-132_5011-130del	NP_597677.2:n.5011-132_5011-130del
XM_005248280.2:c.5011-132_5011-130del	XP_005248337.1:n.5011-132_5011-130del
XM_005248282.3:c.4267-132_4267-130del	XP_005248339.2:n.4267-132_4267-130del
XM_006714467.2:c.5011-132_5011-130del	XP_006714530.1:n.5011-132_5011-130del
XM_006714468.1:c.4813-132_4813-130del	XP_006714531.1:n.4813-132_4813-130del
XM_011514014.1:c.4630-132_4630-130del	XP_011512316.1:n.4630-132_4630-130del
XM_011514015.1:c.5011-132_5011-130del	XP_011512317.1:n.5011-132_5011-130del
XM_005248280.3:c.5011-132_5011-130del	XP_005248337.1:n.5011-132_5011-130del
XM_005248282.5:c.4351-132_4351-130del	XP_005248339.3:n.4351-132_4351-130del
XM_006714468.2:c.4813-132_4813-130del	XP_006714531.1:n.4813-132_4813-130del
XM_017009329.1:c.5011-132_5011-130del	XP_016864818.1:n.5011-132_5011-130del
XM_017009330.2:c.3394-132_3394-130del	XP_016864819.1:n.3394-132_3394-130del
XM_017009331.1:c.3385-132_3385-130del	XP_016864820.1:n.3385-132_3385-130del
NM_133433.4:c.5011-132_5011-130del MANE Select	NP_597677.2:n.5011-132_5011-130del
NM_015384.5:c.5011-132_5011-130del	NP_056199.2:n.5011-132_5011-130del