Canonical Allele Identifier: CA810303844

Gene: NIPBL

Linked Data

• dbSNP Id: rs1320206711
• gnomAD v3: 5-36975665-TTTC-T
• gnomAD v4: 5-36975665-TTTC-T
• MyVariant Identifiers: chr5:g.36975768_36975770del (hg19) ; chr5:g.36975666_36975668del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36975668_36975670del , CM000667.2:g.36975668_36975670del	GRCh38
NC_000005.9:g.36975770_36975772del , CM000667.1:g.36975770_36975772del	GRCh37
NC_000005.8:g.37011527_37011529del	NCBI36
NG_006987.1:g.103786_103788del
NG_006987.2:g.103786_103788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.869-108_869-106del MANE Select	ENSP00000282516.8:n.869-108_869-106del
ENST00000652901.1:c.869-108_869-106del	ENSP00000499536.1:n.869-108_869-106del
ENST00000282516.12:c.869-108_869-106del	ENSP00000282516.8:n.869-108_869-106del
ENST00000448238.2:c.869-108_869-106del	ENSP00000406266.2:n.869-108_869-106del
ENST00000504430.5:n.489-108_489-106del
ENST00000505998.5:n.848-108_848-106del
ENST00000621733.1:c.1-88910_1-88908del	ENSP00000480694.1:n.1-88910_1-88908del
NM_015384.4:c.869-108_869-106del	NP_056199.2:n.869-108_869-106del
NM_133433.3:c.869-108_869-106del	NP_597677.2:n.869-108_869-106del
XM_005248280.2:c.869-108_869-106del	XP_005248337.1:n.869-108_869-106del
XM_005248282.3:c.125-108_125-106del	XP_005248339.2:n.125-108_125-106del
XM_006714467.2:c.869-108_869-106del	XP_006714530.1:n.869-108_869-106del
XM_006714468.1:c.869-108_869-106del	XP_006714531.1:n.869-108_869-106del
XM_011514014.1:c.869-108_869-106del	XP_011512316.1:n.869-108_869-106del
XM_011514015.1:c.869-108_869-106del	XP_011512317.1:n.869-108_869-106del
XM_005248280.3:c.869-108_869-106del	XP_005248337.1:n.869-108_869-106del
XM_005248282.5:c.209-108_209-106del	XP_005248339.3:n.209-108_209-106del
XM_006714468.2:c.869-108_869-106del	XP_006714531.1:n.869-108_869-106del
XM_017009329.1:c.869-108_869-106del	XP_016864818.1:n.869-108_869-106del
XM_017009331.1:c.869-108_869-106del	XP_016864820.1:n.869-108_869-106del
NM_133433.4:c.869-108_869-106del MANE Select	NP_597677.2:n.869-108_869-106del
NM_015384.5:c.869-108_869-106del	NP_056199.2:n.869-108_869-106del