Canonical Allele Identifier: CA2673575773

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37052580-CTTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052586_37052588del , CM000667.2:g.37052586_37052588del	GRCh38
NC_000005.9:g.37052688_37052690del , CM000667.1:g.37052688_37052690del	GRCh37
NC_000005.8:g.37088445_37088447del	NCBI36
NG_006987.1:g.180704_180706del
NG_006987.2:g.180704_180706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7263+20_7263+22del MANE Select	ENSP00000282516.8:n.7263+20_7263+22del
ENST00000652901.1:c.7263+20_7263+22del	ENSP00000499536.1:n.7263+20_7263+22del
ENST00000282516.12:c.7263+20_7263+22del	ENSP00000282516.8:n.7263+20_7263+22del
ENST00000448238.2:c.7263+20_7263+22del	ENSP00000406266.2:n.7263+20_7263+22del
ENST00000514335.1:n.1145+20_1145+22del
ENST00000621733.1:c.1-11992_1-11990del	ENSP00000480694.1:n.1-11992_1-11990del
NM_015384.4:c.7263+20_7263+22del	NP_056199.2:n.7263+20_7263+22del
NM_133433.3:c.7263+20_7263+22del	NP_597677.2:n.7263+20_7263+22del
XM_005248280.2:c.7263+20_7263+22del	XP_005248337.1:n.7263+20_7263+22del
XM_005248282.3:c.6519+20_6519+22del	XP_005248339.2:n.6519+20_6519+22del
XM_006714467.2:c.7263+20_7263+22del	XP_006714530.1:n.7263+20_7263+22del
XM_006714468.1:c.7065+20_7065+22del	XP_006714531.1:n.7065+20_7065+22del
XM_011514014.1:c.6882+20_6882+22del	XP_011512316.1:n.6882+20_6882+22del
XM_011514015.1:c.7263+20_7263+22del	XP_011512317.1:n.7263+20_7263+22del
XM_005248280.3:c.7263+20_7263+22del	XP_005248337.1:n.7263+20_7263+22del
XM_005248282.5:c.6603+20_6603+22del	XP_005248339.3:n.6603+20_6603+22del
XM_006714468.2:c.7065+20_7065+22del	XP_006714531.1:n.7065+20_7065+22del
XM_017009329.1:c.7263+20_7263+22del	XP_016864818.1:n.7263+20_7263+22del
XM_017009330.2:c.5646+20_5646+22del	XP_016864819.1:n.5646+20_5646+22del
XM_017009331.1:c.5637+20_5637+22del	XP_016864820.1:n.5637+20_5637+22del
NM_133433.4:c.7263+20_7263+22del MANE Select	NP_597677.2:n.7263+20_7263+22del
NM_015384.5:c.7263+20_7263+22del	NP_056199.2:n.7263+20_7263+22del