Canonical Allele Identifier: CA559295085

Gene: NIPBL

Linked Data

• dbSNP Id: rs1262280929
• gnomAD v2: 5-36986154-A-ATCT
• MyVariant Identifiers: chr5:g.36986154_36986155insTCT (hg19) ; chr5:g.36986052_36986053insTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36986053_36986054insCTT , CM000667.2:g.36986053_36986054insCTT	GRCh38
NC_000005.9:g.36986155_36986156insCTT , CM000667.1:g.36986155_36986156insCTT	GRCh37
NC_000005.8:g.37021912_37021913insCTT	NCBI36
NG_006987.1:g.114171_114172insCTT
NG_006987.2:g.114171_114172insCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2873_2874insCTT MANE Select	ENSP00000282516.8:p.Ile958_Pro959insPhe
ENST00000652901.1:c.2873_2874insCTT	ENSP00000499536.1:p.Ile958_Pro959insPhe
ENST00000282516.12:c.2873_2874insCTT	ENSP00000282516.8:p.Ile958_Pro959insPhe
ENST00000448238.2:c.2873_2874insCTT	ENSP00000406266.2:p.Ile958_Pro959insPhe
ENST00000504430.5:n.2493_2494insCTT
ENST00000621733.1:c.1-78525_1-78524insCTT	ENSP00000480694.1:n.1-78525_1-78524insCTT
NM_015384.4:c.2873_2874insCTT	NP_056199.2:p.Ile958_Pro959insPhe
NM_133433.3:c.2873_2874insCTT	NP_597677.2:p.Ile958_Pro959insPhe
XM_005248280.2:c.2873_2874insCTT	XP_005248337.1:p.Ile958_Pro959insPhe
XM_005248282.3:c.2129_2130insCTT	XP_005248339.2:p.Ile710_Pro711insPhe
XM_006714467.2:c.2873_2874insCTT	XP_006714530.1:p.Ile958_Pro959insPhe
XM_006714468.1:c.2873_2874insCTT	XP_006714531.1:p.Ile958_Pro959insPhe
XM_011514014.1:c.2873_2874insCTT	XP_011512316.1:p.Ile958_Pro959insPhe
XM_011514015.1:c.2873_2874insCTT	XP_011512317.1:p.Ile958_Pro959insPhe
XM_005248280.3:c.2873_2874insCTT	XP_005248337.1:p.Ile958_Pro959insPhe
XM_005248282.5:c.2213_2214insCTT	XP_005248339.3:p.Ile738_Pro739insPhe
XM_006714468.2:c.2873_2874insCTT	XP_006714531.1:p.Ile958_Pro959insPhe
XM_017009329.1:c.2873_2874insCTT	XP_016864818.1:p.Ile958_Pro959insPhe
XM_017009330.2:c.1256_1257insCTT	XP_016864819.1:p.Ile419_Pro420insPhe
XM_017009331.1:c.1496-9569_1496-9568insCTT	XP_016864820.1:n.1496-9569_1496-9568insCTT
NM_133433.4:c.2873_2874insCTT MANE Select	NP_597677.2:p.Ile958_Pro959insPhe
NM_015384.5:c.2873_2874insCTT	NP_056199.2:p.Ile958_Pro959insPhe