Canonical Allele Identifier: CA2673576981

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37036444-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37036446del , CM000667.2:g.37036446del	GRCh38
NC_000005.9:g.37036548del , CM000667.1:g.37036548del	GRCh37
NC_000005.8:g.37072305del	NCBI36
NG_006987.1:g.164564del
NG_006987.2:g.164564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5930del MANE Select	ENSP00000282516.8:p.Asn1977ThrfsTer2
ENST00000652901.1:c.5930del	ENSP00000499536.1:p.Asn1977ThrfsTer2
ENST00000282516.12:c.5930del	ENSP00000282516.8:p.Asn1977ThrfsTer2
ENST00000448238.2:c.5930del	ENSP00000406266.2:p.Asn1977ThrfsTer2
ENST00000621733.1:c.1-28132del	ENSP00000480694.1:n.1-28132del
NM_015384.4:c.5930del	NP_056199.2:p.Asn1977ThrfsTer2
NM_133433.3:c.5930del	NP_597677.2:p.Asn1977ThrfsTer2
XM_005248280.2:c.5930del	XP_005248337.1:p.Asn1977ThrfsTer2
XM_005248282.3:c.5186del	XP_005248339.2:p.Asn1729ThrfsTer2
XM_006714467.2:c.5930del	XP_006714530.1:p.Asn1977ThrfsTer2
XM_006714468.1:c.5732del	XP_006714531.1:p.Asn1911ThrfsTer2
XM_011514014.1:c.5549del	XP_011512316.1:p.Asn1850ThrfsTer2
XM_011514015.1:c.5930del	XP_011512317.1:p.Asn1977ThrfsTer2
XM_005248280.3:c.5930del	XP_005248337.1:p.Asn1977ThrfsTer2
XM_005248282.5:c.5270del	XP_005248339.3:p.Asn1757ThrfsTer2
XM_006714468.2:c.5732del	XP_006714531.1:p.Asn1911ThrfsTer2
XM_017009329.1:c.5930del	XP_016864818.1:p.Asn1977ThrfsTer2
XM_017009330.2:c.4313del	XP_016864819.1:p.Asn1438ThrfsTer2
XM_017009331.1:c.4304del	XP_016864820.1:p.Asn1435ThrfsTer2
NM_133433.4:c.5930del MANE Select	NP_597677.2:p.Asn1977ThrfsTer2
NM_015384.5:c.5930del	NP_056199.2:p.Asn1977ThrfsTer2