Canonical Allele Identifier: CA3237003
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs772262514
ExAC: 5:37045702 AAAGGT / A
gnomAD v2: 5-37045702-AAAGGT-A
MyVariant Identifiers: chr5:g.37045703_37045707del (hg19) chr5:g.37045601_37045605del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045602_37045606del , CM000667.2:g.37045602_37045606del GRCh38
NC_000005.9:g.37045704_37045708del , CM000667.1:g.37045704_37045708del GRCh37
NC_000005.8:g.37081461_37081465del NCBI36
NG_006987.1:g.173720_173724del
NG_006987.2:g.173720_173724del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6498+5_6498+9del MANE Select ENSP00000282516.8:n.6498+5_6498+9del
ENST00000652901.1:c.6498+5_6498+9del ENSP00000499536.1:n.6498+5_6498+9del
ENST00000282516.12:c.6498+5_6498+9del ENSP00000282516.8:n.6498+5_6498+9del
ENST00000448238.2:c.6498+5_6498+9del ENSP00000406266.2:n.6498+5_6498+9del
ENST00000621733.1:c.1-18976_1-18972del ENSP00000480694.1:n.1-18976_1-18972del
NM_015384.4:c.6498+5_6498+9del NP_056199.2:n.6498+5_6498+9del
NM_133433.3:c.6498+5_6498+9del NP_597677.2:n.6498+5_6498+9del
XM_005248280.2:c.6498+5_6498+9del XP_005248337.1:n.6498+5_6498+9del
XM_005248282.3:c.5754+5_5754+9del XP_005248339.2:n.5754+5_5754+9del
XM_006714467.2:c.6498+5_6498+9del XP_006714530.1:n.6498+5_6498+9del
XM_006714468.1:c.6300+5_6300+9del XP_006714531.1:n.6300+5_6300+9del
XM_011514014.1:c.6117+5_6117+9del XP_011512316.1:n.6117+5_6117+9del
XM_011514015.1:c.6498+5_6498+9del XP_011512317.1:n.6498+5_6498+9del
XM_005248280.3:c.6498+5_6498+9del XP_005248337.1:n.6498+5_6498+9del
XM_005248282.5:c.5838+5_5838+9del XP_005248339.3:n.5838+5_5838+9del
XM_006714468.2:c.6300+5_6300+9del XP_006714531.1:n.6300+5_6300+9del
XM_017009329.1:c.6498+5_6498+9del XP_016864818.1:n.6498+5_6498+9del
XM_017009330.2:c.4881+5_4881+9del XP_016864819.1:n.4881+5_4881+9del
XM_017009331.1:c.4872+5_4872+9del XP_016864820.1:n.4872+5_4872+9del
NM_133433.4:c.6498+5_6498+9del MANE Select NP_597677.2:n.6498+5_6498+9del
NM_015384.5:c.6498+5_6498+9del NP_056199.2:n.6498+5_6498+9del
Search 100 bp 5'
Search 100 bp 3'