Canonical Allele Identifier: CA1539601325

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000846_37000848delinsCAG , CM000667.2:g.37000846_37000848delinsCAG	GRCh38
NC_000005.9:g.37000948_37000950delinsCAG , CM000667.1:g.37000948_37000950delinsCAG	GRCh37
NC_000005.8:g.37036705_37036707delinsCAG	NCBI36
NG_006987.1:g.128964_128966delinsCAG
NG_006987.2:g.128964_128966delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3532_3534delinsCAG MANE Select	ENSP00000282516.8:p.Gln1178=
ENST00000652901.1:c.3532_3534delinsCAG	ENSP00000499536.1:p.Gln1178=
ENST00000282516.12:c.3532_3534delinsCAG	ENSP00000282516.8:p.Gln1178=
ENST00000448238.2:c.3532_3534delinsCAG	ENSP00000406266.2:p.Gln1178=
ENST00000621733.1:c.1-63732_1-63730delinsCAG	ENSP00000480694.1:n.1-63732_1-63730delinsCAG
NM_015384.4:c.3532_3534delinsCAG	NP_056199.2:p.Gln1178=
NM_133433.3:c.3532_3534delinsCAG	NP_597677.2:p.Gln1178=
XM_005248280.2:c.3532_3534delinsCAG	XP_005248337.1:p.Gln1178=
XM_005248282.3:c.2788_2790delinsCAG	XP_005248339.2:p.Gln930=
XM_006714467.2:c.3532_3534delinsCAG	XP_006714530.1:p.Gln1178=
XM_006714468.1:c.3334_3336delinsCAG	XP_006714531.1:p.Gln1112=
XM_011514014.1:c.3151_3153delinsCAG	XP_011512316.1:p.Gln1051=
XM_011514015.1:c.3532_3534delinsCAG	XP_011512317.1:p.Gln1178=
XM_005248280.3:c.3532_3534delinsCAG	XP_005248337.1:p.Gln1178=
XM_005248282.5:c.2872_2874delinsCAG	XP_005248339.3:p.Gln958=
XM_006714468.2:c.3334_3336delinsCAG	XP_006714531.1:p.Gln1112=
XM_017009329.1:c.3532_3534delinsCAG	XP_016864818.1:p.Gln1178=
XM_017009330.2:c.1915_1917delinsCAG	XP_016864819.1:p.Gln639=
XM_017009331.1:c.1906_1908delinsCAG	XP_016864820.1:p.Gln636=
NM_133433.4:c.3532_3534delinsCAG MANE Select	NP_597677.2:p.Gln1178=
NM_015384.5:c.3532_3534delinsCAG	NP_056199.2:p.Gln1178=