Canonical Allele Identifier: CA917452566

Gene: NIPBL

Linked Data

• dbSNP Id: rs1561131891
• gnomAD v3: 5-36995787-GTGA-G
• gnomAD v4: 5-36995787-GTGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995791_36995793del , CM000667.2:g.36995791_36995793del	GRCh38
NC_000005.9:g.36995893_36995895del , CM000667.1:g.36995893_36995895del	GRCh37
NC_000005.8:g.37031650_37031652del	NCBI36
NG_006987.1:g.123909_123911del
NG_006987.2:g.123909_123911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3291_3293del MANE Select	ENSP00000282516.8:p.Asp1097del
ENST00000652901.1:c.3291_3293del	ENSP00000499536.1:p.Asp1097del
ENST00000282516.12:c.3291_3293del	ENSP00000282516.8:p.Asp1097del
ENST00000448238.2:c.3291_3293del	ENSP00000406266.2:p.Asp1097del
ENST00000503274.1:n.642_644del
ENST00000504430.5:n.2911_2913del
ENST00000509429.1:n.42_44del
ENST00000621733.1:c.1-68787_1-68785del	ENSP00000480694.1:n.1-68787_1-68785del
NM_015384.4:c.3291_3293del	NP_056199.2:p.Asp1097del
NM_133433.3:c.3291_3293del	NP_597677.2:p.Asp1097del
XM_005248280.2:c.3291_3293del	XP_005248337.1:p.Asp1097del
XM_005248282.3:c.2547_2549del	XP_005248339.2:p.Asp849del
XM_006714467.2:c.3291_3293del	XP_006714530.1:p.Asp1097del
XM_006714468.1:c.3291_3293del	XP_006714531.1:p.Asp1097del
XM_011514014.1:c.3122-5026_3122-5024del	XP_011512316.1:n.3122-5026_3122-5024del
XM_011514015.1:c.3291_3293del	XP_011512317.1:p.Asp1097del
XM_005248280.3:c.3291_3293del	XP_005248337.1:p.Asp1097del
XM_005248282.5:c.2631_2633del	XP_005248339.3:p.Asp877del
XM_006714468.2:c.3291_3293del	XP_006714531.1:p.Asp1097del
XM_017009329.1:c.3291_3293del	XP_016864818.1:p.Asp1097del
XM_017009330.2:c.1674_1676del	XP_016864819.1:p.Asp558del
XM_017009331.1:c.1665_1667del	XP_016864820.1:p.Asp555del
NM_133433.4:c.3291_3293del MANE Select	NP_597677.2:p.Asp1097del
NM_015384.5:c.3291_3293del	NP_056199.2:p.Asp1097del