Canonical Allele Identifier: CA915943328

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 647925
• ClinVar RCV Id: RCV000802550
• dbSNP Id: rs1580425629

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995753del , CM000667.2:g.36995753del	GRCh38
NC_000005.9:g.36995855del , CM000667.1:g.36995855del	GRCh37
NC_000005.8:g.37031612del	NCBI36
NG_006987.1:g.123871del
NG_006987.2:g.123871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3253del MANE Select	ENSP00000282516.8:p.Tyr1085MetfsTer?
ENST00000652901.1:c.3253del	ENSP00000499536.1:p.Tyr1085MetfsTer?
ENST00000282516.12:c.3253del	ENSP00000282516.8:p.Tyr1085MetfsTer?
ENST00000448238.2:c.3253del	ENSP00000406266.2:p.Tyr1085MetfsTer?
ENST00000503274.1:n.604del
ENST00000504430.5:n.2873del
ENST00000509429.1:n.4del
ENST00000621733.1:c.1-68825del	ENSP00000480694.1:n.1-68825del
NM_015384.4:c.3253del	NP_056199.2:p.Tyr1085MetfsTer?
NM_133433.3:c.3253del	NP_597677.2:p.Tyr1085MetfsTer?
XM_005248280.2:c.3253del	XP_005248337.1:p.Tyr1085MetfsTer?
XM_005248282.3:c.2509del	XP_005248339.2:p.Tyr837MetfsTer?
XM_006714467.2:c.3253del	XP_006714530.1:p.Tyr1085MetfsTer?
XM_006714468.1:c.3253del	XP_006714531.1:p.Tyr1085MetfsTer22
XM_011514014.1:c.3122-5064del	XP_011512316.1:n.3122-5064del
XM_011514015.1:c.3253del	XP_011512317.1:p.Tyr1085MetfsTer?
XM_005248280.3:c.3253del	XP_005248337.1:p.Tyr1085MetfsTer?
XM_005248282.5:c.2593del	XP_005248339.3:p.Tyr865MetfsTer?
XM_006714468.2:c.3253del	XP_006714531.1:p.Tyr1085MetfsTer22
XM_017009329.1:c.3253del	XP_016864818.1:p.Tyr1085MetfsTer?
XM_017009330.2:c.1636del	XP_016864819.1:p.Tyr546MetfsTer?
XM_017009331.1:c.1627del	XP_016864820.1:p.Tyr543MetfsTer?
NM_133433.4:c.3253del MANE Select	NP_597677.2:p.Tyr1085MetfsTer?
NM_015384.5:c.3253del	NP_056199.2:p.Tyr1085MetfsTer?