Canonical Allele Identifier: CA3236569

Gene: NIPBL

Linked Data

• dbSNP Id: rs754929654
• ExAC: 5:37010321 TAAA / T
• gnomAD v2: 5-37010321-TAAA-T
• gnomAD v3: 5-37010219-TAAA-T
• gnomAD v4: 5-37010219-TAAA-T
• MyVariant Identifiers: chr5:g.37010322_37010324del (hg19) ; chr5:g.37010220_37010222del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37010223_37010225del , CM000667.2:g.37010223_37010225del	GRCh38
NC_000005.9:g.37010325_37010327del , CM000667.1:g.37010325_37010327del	GRCh37
NC_000005.8:g.37046082_37046084del	NCBI36
NG_006987.1:g.138341_138343del
NG_006987.2:g.138341_138343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4558_4560del MANE Select	ENSP00000282516.8:p.Lys1520del
ENST00000652901.1:c.4558_4560del	ENSP00000499536.1:p.Lys1520del
ENST00000282516.12:c.4558_4560del	ENSP00000282516.8:p.Lys1520del
ENST00000448238.2:c.4558_4560del	ENSP00000406266.2:p.Lys1520del
ENST00000621733.1:c.1-54355_1-54353del	ENSP00000480694.1:n.1-54355_1-54353del
NM_015384.4:c.4558_4560del	NP_056199.2:p.Lys1520del
NM_133433.3:c.4558_4560del	NP_597677.2:p.Lys1520del
XM_005248280.2:c.4558_4560del	XP_005248337.1:p.Lys1520del
XM_005248282.3:c.3814_3816del	XP_005248339.2:p.Lys1272del
XM_006714467.2:c.4558_4560del	XP_006714530.1:p.Lys1520del
XM_006714468.1:c.4360_4362del	XP_006714531.1:p.Lys1454del
XM_011514014.1:c.4177_4179del	XP_011512316.1:p.Lys1393del
XM_011514015.1:c.4558_4560del	XP_011512317.1:p.Lys1520del
XM_005248280.3:c.4558_4560del	XP_005248337.1:p.Lys1520del
XM_005248282.5:c.3898_3900del	XP_005248339.3:p.Lys1300del
XM_006714468.2:c.4360_4362del	XP_006714531.1:p.Lys1454del
XM_017009329.1:c.4558_4560del	XP_016864818.1:p.Lys1520del
XM_017009330.2:c.2941_2943del	XP_016864819.1:p.Lys981del
XM_017009331.1:c.2932_2934del	XP_016864820.1:p.Lys978del
NM_133433.4:c.4558_4560del MANE Select	NP_597677.2:p.Lys1520del
NM_015384.5:c.4558_4560del	NP_056199.2:p.Lys1520del