Canonical Allele Identifier: CA333579

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 180191
• ClinVar RCV Id: RCV000157043 ; RCV003229814
• dbSNP Id: rs727503767
• gnomAD v2: 5-36985082-TA-T
• gnomAD v4: 5-36984980-TA-T
• COSMIC: COSM1437262 ; COSM1437263
• MyVariant Identifiers: chr5:g.36985083del (hg19) ; chr5:g.36984981del (hg38)
• PubMed: PMID:25574841

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36984988del , CM000667.2:g.36984988del	GRCh38
NC_000005.9:g.36985090del , CM000667.1:g.36985090del	GRCh37
NC_000005.8:g.37020847del	NCBI36
NG_006987.1:g.113106del
NG_006987.2:g.113106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1808del MANE Select	ENSP00000282516.8:p.Lys603SerfsTer11
ENST00000652901.1:c.1808del	ENSP00000499536.1:p.Lys603SerfsTer11
ENST00000282516.12:c.1808del	ENSP00000282516.8:p.Lys603SerfsTer11
ENST00000448238.2:c.1808del	ENSP00000406266.2:p.Lys603SerfsTer11
ENST00000504430.5:n.1428del
ENST00000621733.1:c.1-79590del	ENSP00000480694.1:n.1-79590del
NM_015384.4:c.1808del	NP_056199.2:p.Lys603SerfsTer11
NM_133433.3:c.1808del	NP_597677.2:p.Lys603SerfsTer11
XM_005248280.2:c.1808del	XP_005248337.1:p.Lys603SerfsTer11
XM_005248282.3:c.1064del	XP_005248339.2:p.Lys355SerfsTer11
XM_006714467.2:c.1808del	XP_006714530.1:p.Lys603SerfsTer11
XM_006714468.1:c.1808del	XP_006714531.1:p.Lys603SerfsTer11
XM_011514014.1:c.1808del	XP_011512316.1:p.Lys603SerfsTer11
XM_011514015.1:c.1808del	XP_011512317.1:p.Lys603SerfsTer11
XM_005248280.3:c.1808del	XP_005248337.1:p.Lys603SerfsTer11
XM_005248282.5:c.1148del	XP_005248339.3:p.Lys383SerfsTer11
XM_006714468.2:c.1808del	XP_006714531.1:p.Lys603SerfsTer11
XM_017009329.1:c.1808del	XP_016864818.1:p.Lys603SerfsTer11
XM_017009330.2:c.191del	XP_016864819.1:p.Lys64SerfsTer11
XM_017009331.1:c.1495+8586del	XP_016864820.1:n.1495+8586del
NM_133433.4:c.1808del MANE Select	NP_597677.2:p.Lys603SerfsTer11
NM_015384.5:c.1808del	NP_056199.2:p.Lys603SerfsTer11