Canonical Allele Identifier: CA1539580149

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36984690_36984694delinsAAAAG , CM000667.2:g.36984690_36984694delinsAAAAG	GRCh38
NC_000005.9:g.36984792_36984796delinsAAAAG , CM000667.1:g.36984792_36984796delinsAAAAG	GRCh37
NC_000005.8:g.37020549_37020553delinsAAAAG	NCBI36
NG_006987.1:g.112808_112812delinsAAAAG
NG_006987.2:g.112808_112812delinsAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1510_1514delinsAAAAG MANE Select	ENSP00000282516.8:p.Lys504=
ENST00000652901.1:c.1510_1514delinsAAAAG	ENSP00000499536.1:p.Lys504=
ENST00000282516.12:c.1510_1514delinsAAAAG	ENSP00000282516.8:p.Lys504=
ENST00000448238.2:c.1510_1514delinsAAAAG	ENSP00000406266.2:p.Lys504=
ENST00000504430.5:n.1130_1134delinsAAAAG
ENST00000621733.1:c.1-79888_1-79884delinsAAAAG	ENSP00000480694.1:n.1-79888_1-79884delinsAAAAG
NM_015384.4:c.1510_1514delinsAAAAG	NP_056199.2:p.Lys504=
NM_133433.3:c.1510_1514delinsAAAAG	NP_597677.2:p.Lys504=
XM_005248280.2:c.1510_1514delinsAAAAG	XP_005248337.1:p.Lys504=
XM_005248282.3:c.766_770delinsAAAAG	XP_005248339.2:p.Lys256=
XM_006714467.2:c.1510_1514delinsAAAAG	XP_006714530.1:p.Lys504=
XM_006714468.1:c.1510_1514delinsAAAAG	XP_006714531.1:p.Lys504=
XM_011514014.1:c.1510_1514delinsAAAAG	XP_011512316.1:p.Lys504=
XM_011514015.1:c.1510_1514delinsAAAAG	XP_011512317.1:p.Lys504=
XM_005248280.3:c.1510_1514delinsAAAAG	XP_005248337.1:p.Lys504=
XM_005248282.5:c.850_854delinsAAAAG	XP_005248339.3:p.Lys284=
XM_006714468.2:c.1510_1514delinsAAAAG	XP_006714531.1:p.Lys504=
XM_017009329.1:c.1510_1514delinsAAAAG	XP_016864818.1:p.Lys504=
XM_017009330.2:c.-108_-104delinsAAAAG	XP_016864819.1:n.-108_-104delinsAAAAG
XM_017009331.1:c.1495+8288_1495+8292delinsAAAAG	XP_016864820.1:n.1495+8288_1495+8292delinsAAAAG
NM_133433.4:c.1510_1514delinsAAAAG MANE Select	NP_597677.2:p.Lys504=
NM_015384.5:c.1510_1514delinsAAAAG	NP_056199.2:p.Lys504=