Canonical Allele Identifier: CA2573139681

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1458981
• ClinVar RCV Id: RCV001975108
• dbSNP Id: rs2149643317

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36984852del , CM000667.2:g.36984852del	GRCh38
NC_000005.9:g.36984954del , CM000667.1:g.36984954del	GRCh37
NC_000005.8:g.37020711del	NCBI36
NG_006987.1:g.112970del
NG_006987.2:g.112970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1672del MANE Select	ENSP00000282516.8:p.Thr558LeufsTer7
ENST00000652901.1:c.1672del	ENSP00000499536.1:p.Thr558LeufsTer7
ENST00000282516.12:c.1672del	ENSP00000282516.8:p.Thr558LeufsTer7
ENST00000448238.2:c.1672del	ENSP00000406266.2:p.Thr558LeufsTer7
ENST00000504430.5:n.1292del
ENST00000621733.1:c.1-79726del	ENSP00000480694.1:n.1-79726del
NM_015384.4:c.1672del	NP_056199.2:p.Thr558LeufsTer7
NM_133433.3:c.1672del	NP_597677.2:p.Thr558LeufsTer7
XM_005248280.2:c.1672del	XP_005248337.1:p.Thr558LeufsTer7
XM_005248282.3:c.928del	XP_005248339.2:p.Thr310LeufsTer7
XM_006714467.2:c.1672del	XP_006714530.1:p.Thr558LeufsTer7
XM_006714468.1:c.1672del	XP_006714531.1:p.Thr558LeufsTer7
XM_011514014.1:c.1672del	XP_011512316.1:p.Thr558LeufsTer7
XM_011514015.1:c.1672del	XP_011512317.1:p.Thr558LeufsTer7
XM_005248280.3:c.1672del	XP_005248337.1:p.Thr558LeufsTer7
XM_005248282.5:c.1012del	XP_005248339.3:p.Thr338LeufsTer7
XM_006714468.2:c.1672del	XP_006714531.1:p.Thr558LeufsTer7
XM_017009329.1:c.1672del	XP_016864818.1:p.Thr558LeufsTer7
XM_017009330.2:c.55del	XP_016864819.1:p.Thr19LeufsTer7
XM_017009331.1:c.1495+8450del	XP_016864820.1:n.1495+8450del
NM_133433.4:c.1672del MANE Select	NP_597677.2:p.Thr558LeufsTer7
NM_015384.5:c.1672del	NP_056199.2:p.Thr558LeufsTer7