Canonical Allele Identifier: CA559012567

Gene: NIPBL

Linked Data

• dbSNP Id: rs1281003670
• gnomAD v2: 5-36953893-TCTA-T
• gnomAD v3: 5-36953791-TCTA-T
• gnomAD v4: 5-36953791-TCTA-T
• MyVariant Identifiers: chr5:g.36953894_36953896del (hg19) ; chr5:g.36953792_36953794del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36953794_36953796del , CM000667.2:g.36953794_36953796del	GRCh38
NC_000005.9:g.36953896_36953898del , CM000667.1:g.36953896_36953898del	GRCh37
NC_000005.8:g.36989653_36989655del	NCBI36
NG_006987.1:g.81912_81914del
NG_006987.2:g.81912_81914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.64+34_64+36del MANE Select	ENSP00000282516.8:n.64+34_64+36del
ENST00000652901.1:c.64+34_64+36del	ENSP00000499536.1:n.64+34_64+36del
ENST00000282516.12:c.64+34_64+36del	ENSP00000282516.8:n.64+34_64+36del
ENST00000448238.2:c.64+34_64+36del	ENSP00000406266.2:n.64+34_64+36del
ENST00000621733.1:c.-1+76772_-1+76774del	ENSP00000480694.1:n.-1+76772_-1+76774del
NM_015384.4:c.64+34_64+36del	NP_056199.2:n.64+34_64+36del
NM_133433.3:c.64+34_64+36del	NP_597677.2:n.64+34_64+36del
XM_005248280.2:c.64+34_64+36del	XP_005248337.1:n.64+34_64+36del
XM_006714467.2:c.64+34_64+36del	XP_006714530.1:n.64+34_64+36del
XM_006714468.1:c.64+34_64+36del	XP_006714531.1:n.64+34_64+36del
XM_011514014.1:c.64+34_64+36del	XP_011512316.1:n.64+34_64+36del
XM_011514015.1:c.64+34_64+36del	XP_011512317.1:n.64+34_64+36del
XM_005248280.3:c.64+34_64+36del	XP_005248337.1:n.64+34_64+36del
XM_006714468.2:c.64+34_64+36del	XP_006714531.1:n.64+34_64+36del
XM_017009329.1:c.64+34_64+36del	XP_016864818.1:n.64+34_64+36del
XM_017009331.1:c.64+34_64+36del	XP_016864820.1:n.64+34_64+36del
NM_133433.4:c.64+34_64+36del MANE Select	NP_597677.2:n.64+34_64+36del
NM_015384.5:c.64+34_64+36del	NP_056199.2:n.64+34_64+36del