Canonical Allele Identifier: CA117051335

Gene: NIPBL

Linked Data

• dbSNP Id: rs200564731
• gnomAD v2: 5-37052373-CAATG-C
• gnomAD v3: 5-37052271-CAATG-C
• gnomAD v4: 5-37052271-CAATG-C
• MyVariant Identifiers: chr5:g.37052374_37052377del (hg19) ; chr5:g.37052272_37052275del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052274_37052277del , CM000667.2:g.37052274_37052277del	GRCh38
NC_000005.9:g.37052376_37052379del , CM000667.1:g.37052376_37052379del	GRCh37
NC_000005.8:g.37088133_37088136del	NCBI36
NG_006987.1:g.180392_180395del
NG_006987.2:g.180392_180395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7063-92_7063-89del MANE Select	ENSP00000282516.8:n.7063-92_7063-89del
ENST00000652901.1:c.7063-92_7063-89del	ENSP00000499536.1:n.7063-92_7063-89del
ENST00000282516.12:c.7063-92_7063-89del	ENSP00000282516.8:n.7063-92_7063-89del
ENST00000448238.2:c.7063-92_7063-89del	ENSP00000406266.2:n.7063-92_7063-89del
ENST00000514335.1:n.945-92_945-89del
ENST00000621733.1:c.1-12304_1-12301del	ENSP00000480694.1:n.1-12304_1-12301del
NM_015384.4:c.7063-92_7063-89del	NP_056199.2:n.7063-92_7063-89del
NM_133433.3:c.7063-92_7063-89del	NP_597677.2:n.7063-92_7063-89del
XM_005248280.2:c.7063-92_7063-89del	XP_005248337.1:n.7063-92_7063-89del
XM_005248282.3:c.6319-92_6319-89del	XP_005248339.2:n.6319-92_6319-89del
XM_006714467.2:c.7063-92_7063-89del	XP_006714530.1:n.7063-92_7063-89del
XM_006714468.1:c.6865-92_6865-89del	XP_006714531.1:n.6865-92_6865-89del
XM_011514014.1:c.6682-92_6682-89del	XP_011512316.1:n.6682-92_6682-89del
XM_011514015.1:c.7063-92_7063-89del	XP_011512317.1:n.7063-92_7063-89del
XM_005248280.3:c.7063-92_7063-89del	XP_005248337.1:n.7063-92_7063-89del
XM_005248282.5:c.6403-92_6403-89del	XP_005248339.3:n.6403-92_6403-89del
XM_006714468.2:c.6865-92_6865-89del	XP_006714531.1:n.6865-92_6865-89del
XM_017009329.1:c.7063-92_7063-89del	XP_016864818.1:n.7063-92_7063-89del
XM_017009330.2:c.5446-92_5446-89del	XP_016864819.1:n.5446-92_5446-89del
XM_017009331.1:c.5437-92_5437-89del	XP_016864820.1:n.5437-92_5437-89del
NM_133433.4:c.7063-92_7063-89del MANE Select	NP_597677.2:n.7063-92_7063-89del
NM_015384.5:c.7063-92_7063-89del	NP_056199.2:n.7063-92_7063-89del