Canonical Allele Identifier: CA2695204304

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36976209_36976210insT , CM000667.2:g.36976209_36976210insT	GRCh38
NC_000005.9:g.36976311_36976312insT , CM000667.1:g.36976311_36976312insT	GRCh37
NC_000005.8:g.37012068_37012069insT	NCBI36
NG_006987.1:g.104327_104328insT
NG_006987.2:g.104327_104328insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.1302_1303insT MANE Select	ENSP00000282516.8:p.Pro435SerfsTer?
ENST00000652901.1:c.1302_1303insT	ENSP00000499536.1:p.Pro435SerfsTer?
ENST00000282516.12:c.1302_1303insT	ENSP00000282516.8:p.Pro435SerfsTer?
ENST00000448238.2:c.1302_1303insT	ENSP00000406266.2:p.Pro435SerfsTer?
ENST00000504430.5:n.922_923insT
ENST00000621733.1:c.1-88369_1-88368insT	ENSP00000480694.1:n.1-88369_1-88368insT
NM_015384.4:c.1302_1303insT	NP_056199.2:p.Pro435SerfsTer?
NM_133433.3:c.1302_1303insT	NP_597677.2:p.Pro435SerfsTer?
XM_005248280.2:c.1302_1303insT	XP_005248337.1:p.Pro435SerfsTer?
XM_005248282.3:c.558_559insT	XP_005248339.2:p.Pro187SerfsTer?
XM_006714467.2:c.1302_1303insT	XP_006714530.1:p.Pro435SerfsTer?
XM_006714468.1:c.1302_1303insT	XP_006714531.1:p.Pro435SerfsTer?
XM_011514014.1:c.1302_1303insT	XP_011512316.1:p.Pro435SerfsTer?
XM_011514015.1:c.1302_1303insT	XP_011512317.1:p.Pro435SerfsTer?
XM_005248280.3:c.1302_1303insT	XP_005248337.1:p.Pro435SerfsTer?
XM_005248282.5:c.642_643insT	XP_005248339.3:p.Pro215SerfsTer?
XM_006714468.2:c.1302_1303insT	XP_006714531.1:p.Pro435SerfsTer?
XM_017009329.1:c.1302_1303insT	XP_016864818.1:p.Pro435SerfsTer?
XM_017009331.1:c.1302_1303insT	XP_016864820.1:p.Pro435SerfsTer?
NM_133433.4:c.1302_1303insT MANE Select	NP_597677.2:p.Pro435SerfsTer?
NM_015384.5:c.1302_1303insT	NP_056199.2:p.Pro435SerfsTer?