Canonical Allele Identifier: CA1539611407

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038486_37038489delinsTGAG , CM000667.2:g.37038486_37038489delinsTGAG	GRCh38
NC_000005.9:g.37038588_37038591delinsTGAG , CM000667.1:g.37038588_37038591delinsTGAG	GRCh37
NC_000005.8:g.37074345_37074348delinsTGAG	NCBI36
NG_006987.1:g.166604_166607delinsTGAG
NG_006987.2:g.166604_166607delinsTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5972-116_5972-113delinsTGAG MANE Select	ENSP00000282516.8:n.5972-116_5972-113delinsTGAG
ENST00000652901.1:c.5972-116_5972-113delinsTGAG	ENSP00000499536.1:n.5972-116_5972-113delinsTGAG
ENST00000282516.12:c.5972-116_5972-113delinsTGAG	ENSP00000282516.8:n.5972-116_5972-113delinsTGAG
ENST00000448238.2:c.5972-116_5972-113delinsTGAG	ENSP00000406266.2:n.5972-116_5972-113delinsTGAG
ENST00000621733.1:c.1-26092_1-26089delinsTGAG	ENSP00000480694.1:n.1-26092_1-26089delinsTGAG
NM_015384.4:c.5972-116_5972-113delinsTGAG	NP_056199.2:n.5972-116_5972-113delinsTGAG
NM_133433.3:c.5972-116_5972-113delinsTGAG	NP_597677.2:n.5972-116_5972-113delinsTGAG
XM_005248280.2:c.5972-116_5972-113delinsTGAG	XP_005248337.1:n.5972-116_5972-113delinsTGAG
XM_005248282.3:c.5228-116_5228-113delinsTGAG	XP_005248339.2:n.5228-116_5228-113delinsTGAG
XM_006714467.2:c.5972-116_5972-113delinsTGAG	XP_006714530.1:n.5972-116_5972-113delinsTGAG
XM_006714468.1:c.5774-116_5774-113delinsTGAG	XP_006714531.1:n.5774-116_5774-113delinsTGAG
XM_011514014.1:c.5591-116_5591-113delinsTGAG	XP_011512316.1:n.5591-116_5591-113delinsTGAG
XM_011514015.1:c.5972-116_5972-113delinsTGAG	XP_011512317.1:n.5972-116_5972-113delinsTGAG
XM_005248280.3:c.5972-116_5972-113delinsTGAG	XP_005248337.1:n.5972-116_5972-113delinsTGAG
XM_005248282.5:c.5312-116_5312-113delinsTGAG	XP_005248339.3:n.5312-116_5312-113delinsTGAG
XM_006714468.2:c.5774-116_5774-113delinsTGAG	XP_006714531.1:n.5774-116_5774-113delinsTGAG
XM_017009329.1:c.5972-116_5972-113delinsTGAG	XP_016864818.1:n.5972-116_5972-113delinsTGAG
XM_017009330.2:c.4355-116_4355-113delinsTGAG	XP_016864819.1:n.4355-116_4355-113delinsTGAG
XM_017009331.1:c.4346-116_4346-113delinsTGAG	XP_016864820.1:n.4346-116_4346-113delinsTGAG
NM_133433.4:c.5972-116_5972-113delinsTGAG MANE Select	NP_597677.2:n.5972-116_5972-113delinsTGAG
NM_015384.5:c.5972-116_5972-113delinsTGAG	NP_056199.2:n.5972-116_5972-113delinsTGAG