Canonical Allele Identifier: CA272075
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159094
ClinVar RCV Id: RCV000146587
dbSNP Id: rs587783931
MyVariant Identifiers: chr5:g.37003398_37003412del (hg19) chr5:g.37003296_37003310del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37003296_37003310del , CM000667.2:g.37003296_37003310del GRCh38
NC_000005.9:g.37003398_37003412del , CM000667.1:g.37003398_37003412del GRCh37
NC_000005.8:g.37039155_37039169del NCBI36
NG_006987.1:g.131414_131428del
NG_006987.2:g.131414_131428del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3804_3818del MANE Select ENSP00000282516.8:p.Leu1269_Ile1273del
ENST00000652901.1:c.3804_3818del ENSP00000499536.1:p.Leu1269_Ile1273del
ENST00000282516.12:c.3804_3818del ENSP00000282516.8:p.Leu1269_Ile1273del
ENST00000448238.2:c.3804_3818del ENSP00000406266.2:p.Leu1269_Ile1273del
ENST00000621733.1:c.1-61282_1-61268del ENSP00000480694.1:n.1-61282_1-61268del
NM_015384.4:c.3804_3818del NP_056199.2:p.Leu1269_Ile1273del
NM_133433.3:c.3804_3818del NP_597677.2:p.Leu1269_Ile1273del
XM_005248280.2:c.3804_3818del XP_005248337.1:p.Leu1269_Ile1273del
XM_005248282.3:c.3060_3074del XP_005248339.2:p.Leu1021_Ile1025del
XM_006714467.2:c.3804_3818del XP_006714530.1:p.Leu1269_Ile1273del
XM_006714468.1:c.3606_3620del XP_006714531.1:p.Leu1203_Ile1207del
XM_011514014.1:c.3423_3437del XP_011512316.1:p.Leu1142_Ile1146del
XM_011514015.1:c.3804_3818del XP_011512317.1:p.Leu1269_Ile1273del
XM_005248280.3:c.3804_3818del XP_005248337.1:p.Leu1269_Ile1273del
XM_005248282.5:c.3144_3158del XP_005248339.3:p.Leu1049_Ile1053del
XM_006714468.2:c.3606_3620del XP_006714531.1:p.Leu1203_Ile1207del
XM_017009329.1:c.3804_3818del XP_016864818.1:p.Leu1269_Ile1273del
XM_017009330.2:c.2187_2201del XP_016864819.1:p.Leu730_Ile734del
XM_017009331.1:c.2178_2192del XP_016864820.1:p.Leu727_Ile731del
NM_133433.4:c.3804_3818del MANE Select NP_597677.2:p.Leu1269_Ile1273del
NM_015384.5:c.3804_3818del NP_056199.2:p.Leu1269_Ile1273del
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