Canonical Allele Identifier: CA272255
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159207
ClinVar RCV Id: RCV000146701 RCV001564728
dbSNP Id: rs587784022
MyVariant Identifiers: chr5:g.37048667_37048669del (hg19) chr5:g.37048565_37048567del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37048565_37048567del , CM000667.2:g.37048565_37048567del GRCh38
NC_000005.9:g.37048667_37048669del , CM000667.1:g.37048667_37048669del GRCh37
NC_000005.8:g.37084424_37084426del NCBI36
NG_006987.1:g.176683_176685del
NG_006987.2:g.176683_176685del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6653_6655del MANE Select ENSP00000282516.8:p.Asn2218del
ENST00000652901.1:c.6653_6655del ENSP00000499536.1:p.Asn2218del
ENST00000282516.12:c.6653_6655del ENSP00000282516.8:p.Asn2218del
ENST00000448238.2:c.6653_6655del ENSP00000406266.2:p.Asn2218del
ENST00000621733.1:c.1-16013_1-16011del ENSP00000480694.1:n.1-16013_1-16011del
NM_015384.4:c.6653_6655del NP_056199.2:p.Asn2218del
NM_133433.3:c.6653_6655del NP_597677.2:p.Asn2218del
XM_005248280.2:c.6653_6655del XP_005248337.1:p.Asn2218del
XM_005248282.3:c.5909_5911del XP_005248339.2:p.Asn1970del
XM_006714467.2:c.6653_6655del XP_006714530.1:p.Asn2218del
XM_006714468.1:c.6455_6457del XP_006714531.1:p.Asn2152del
XM_011514014.1:c.6272_6274del XP_011512316.1:p.Asn2091del
XM_011514015.1:c.6653_6655del XP_011512317.1:p.Asn2218del
XM_005248280.3:c.6653_6655del XP_005248337.1:p.Asn2218del
XM_005248282.5:c.5993_5995del XP_005248339.3:p.Asn1998del
XM_006714468.2:c.6455_6457del XP_006714531.1:p.Asn2152del
XM_017009329.1:c.6653_6655del XP_016864818.1:p.Asn2218del
XM_017009330.2:c.5036_5038del XP_016864819.1:p.Asn1679del
XM_017009331.1:c.5027_5029del XP_016864820.1:p.Asn1676del
NM_133433.4:c.6653_6655del MANE Select NP_597677.2:p.Asn2218del
NM_015384.5:c.6653_6655del NP_056199.2:p.Asn2218del
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