Canonical Allele Identifier: CA2673582101

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36984686-G-GAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36984693_36984694insAAAAAAAA , CM000667.2:g.36984693_36984694insAAAAAAAA	GRCh38
NC_000005.9:g.36984795_36984796insAAAAAAAA , CM000667.1:g.36984795_36984796insAAAAAAAA	GRCh37
NC_000005.8:g.37020552_37020553insAAAAAAAA	NCBI36
NG_006987.1:g.112811_112812insAAAAAAAA
NG_006987.2:g.112811_112812insAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1513_1514insAAAAAAAA MANE Select	ENSP00000282516.8:p.Arg505LysfsTer?
ENST00000652901.1:c.1513_1514insAAAAAAAA	ENSP00000499536.1:p.Arg505LysfsTer?
ENST00000282516.12:c.1513_1514insAAAAAAAA	ENSP00000282516.8:p.Arg505LysfsTer?
ENST00000448238.2:c.1513_1514insAAAAAAAA	ENSP00000406266.2:p.Arg505LysfsTer?
ENST00000504430.5:n.1133_1134insAAAAAAAA
ENST00000621733.1:c.1-79885_1-79884insAAAAAAAA	ENSP00000480694.1:n.1-79885_1-79884insAAAAAAAA
NM_015384.4:c.1513_1514insAAAAAAAA	NP_056199.2:p.Arg505LysfsTer?
NM_133433.3:c.1513_1514insAAAAAAAA	NP_597677.2:p.Arg505LysfsTer?
XM_005248280.2:c.1513_1514insAAAAAAAA	XP_005248337.1:p.Arg505LysfsTer?
XM_005248282.3:c.769_770insAAAAAAAA	XP_005248339.2:p.Arg257LysfsTer?
XM_006714467.2:c.1513_1514insAAAAAAAA	XP_006714530.1:p.Arg505LysfsTer?
XM_006714468.1:c.1513_1514insAAAAAAAA	XP_006714531.1:p.Arg505LysfsTer?
XM_011514014.1:c.1513_1514insAAAAAAAA	XP_011512316.1:p.Arg505LysfsTer?
XM_011514015.1:c.1513_1514insAAAAAAAA	XP_011512317.1:p.Arg505LysfsTer?
XM_005248280.3:c.1513_1514insAAAAAAAA	XP_005248337.1:p.Arg505LysfsTer?
XM_005248282.5:c.853_854insAAAAAAAA	XP_005248339.3:p.Arg285LysfsTer?
XM_006714468.2:c.1513_1514insAAAAAAAA	XP_006714531.1:p.Arg505LysfsTer?
XM_017009329.1:c.1513_1514insAAAAAAAA	XP_016864818.1:p.Arg505LysfsTer?
XM_017009330.2:c.-105_-104insAAAAAAAA	XP_016864819.1:n.-105_-104insAAAAAAAA
XM_017009331.1:c.1495+8291_1495+8292insAAAAAAAA	XP_016864820.1:n.1495+8291_1495+8292insAAAAAAAA
NM_133433.4:c.1513_1514insAAAAAAAA MANE Select	NP_597677.2:p.Arg505LysfsTer?
NM_015384.5:c.1513_1514insAAAAAAAA	NP_056199.2:p.Arg505LysfsTer?