Canonical Allele Identifier: CA1539572049

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052350_37052352delinsCTT , CM000667.2:g.37052350_37052352delinsCTT	GRCh38
NC_000005.9:g.37052452_37052454delinsCTT , CM000667.1:g.37052452_37052454delinsCTT	GRCh37
NC_000005.8:g.37088209_37088211delinsCTT	NCBI36
NG_006987.1:g.180468_180470delinsCTT
NG_006987.2:g.180468_180470delinsCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7063-16_7063-14delinsCTT MANE Select	ENSP00000282516.8:n.7063-16_7063-14delinsCTT
ENST00000652901.1:c.7063-16_7063-14delinsCTT	ENSP00000499536.1:n.7063-16_7063-14delinsCTT
ENST00000282516.12:c.7063-16_7063-14delinsCTT	ENSP00000282516.8:n.7063-16_7063-14delinsCTT
ENST00000448238.2:c.7063-16_7063-14delinsCTT	ENSP00000406266.2:n.7063-16_7063-14delinsCTT
ENST00000514335.1:n.945-16_945-14delinsCTT
ENST00000621733.1:c.1-12228_1-12226delinsCTT	ENSP00000480694.1:n.1-12228_1-12226delinsCTT
NM_015384.4:c.7063-16_7063-14delinsCTT	NP_056199.2:n.7063-16_7063-14delinsCTT
NM_133433.3:c.7063-16_7063-14delinsCTT	NP_597677.2:n.7063-16_7063-14delinsCTT
XM_005248280.2:c.7063-16_7063-14delinsCTT	XP_005248337.1:n.7063-16_7063-14delinsCTT
XM_005248282.3:c.6319-16_6319-14delinsCTT	XP_005248339.2:n.6319-16_6319-14delinsCTT
XM_006714467.2:c.7063-16_7063-14delinsCTT	XP_006714530.1:n.7063-16_7063-14delinsCTT
XM_006714468.1:c.6865-16_6865-14delinsCTT	XP_006714531.1:n.6865-16_6865-14delinsCTT
XM_011514014.1:c.6682-16_6682-14delinsCTT	XP_011512316.1:n.6682-16_6682-14delinsCTT
XM_011514015.1:c.7063-16_7063-14delinsCTT	XP_011512317.1:n.7063-16_7063-14delinsCTT
XM_005248280.3:c.7063-16_7063-14delinsCTT	XP_005248337.1:n.7063-16_7063-14delinsCTT
XM_005248282.5:c.6403-16_6403-14delinsCTT	XP_005248339.3:n.6403-16_6403-14delinsCTT
XM_006714468.2:c.6865-16_6865-14delinsCTT	XP_006714531.1:n.6865-16_6865-14delinsCTT
XM_017009329.1:c.7063-16_7063-14delinsCTT	XP_016864818.1:n.7063-16_7063-14delinsCTT
XM_017009330.2:c.5446-16_5446-14delinsCTT	XP_016864819.1:n.5446-16_5446-14delinsCTT
XM_017009331.1:c.5437-16_5437-14delinsCTT	XP_016864820.1:n.5437-16_5437-14delinsCTT
NM_133433.4:c.7063-16_7063-14delinsCTT MANE Select	NP_597677.2:n.7063-16_7063-14delinsCTT
NM_015384.5:c.7063-16_7063-14delinsCTT	NP_056199.2:n.7063-16_7063-14delinsCTT