Canonical Allele Identifier: CA1539582988

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060853_37060878delinsGAAGTACTCTCCATCTGAATCTGCAA , CM000667.2:g.37060853_37060878delinsGAAGTACTCTCCATCTGAATCTGCAA	GRCh38
NC_000005.9:g.37060955_37060980delinsGAAGTACTCTCCATCTGAATCTGCAA , CM000667.1:g.37060955_37060980delinsGAAGTACTCTCCATCTGAATCTGCAA	GRCh37
NC_000005.8:g.37096712_37096737delinsGAAGTACTCTCCATCTGAATCTGCAA	NCBI36
NG_006987.1:g.188971_188996delinsGAAGTACTCTCCATCTGAATCTGCAA
NG_006987.2:g.188971_188996delinsGAAGTACTCTCCATCTGAATCTGCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7695_7720delinsGAAGTACTCTCCATCTGAATCTGCAA MANE Select	ENSP00000282516.8:p.Gln2565=
ENST00000652901.1:c.7548_7573delinsGAAGTACTCTCCATCTGAATCTGCAA	ENSP00000499536.1:p.Gln2516=
ENST00000282516.12:c.7695_7720delinsGAAGTACTCTCCATCTGAATCTGCAA	ENSP00000282516.8:p.Gln2565=
ENST00000448238.2:c.7695_7720delinsGAAGTACTCTCCATCTGAATCTGCAA	ENSP00000406266.2:p.Gln2565=
ENST00000513819.1:c.263+1688_263+1713delinsGAAGTACTCTCCATCTGAATCTGCAA	ENSP00000421504.1:n.263+1688_263+1713delinsGAAGTACTCTCCATCTGA...
ENST00000514335.1:n.1577_1602delinsGAAGTACTCTCCATCTGAATCTGCAA
ENST00000621733.1:c.1-3725_1-3700delinsGAAGTACTCTCCATCTGAATCTGCAA	ENSP00000480694.1:n.1-3725_1-3700delinsGAAGTACTCTCCATCTGAATCT...
NM_015384.4:c.7695_7720delinsGAAGTACTCTCCATCTGAATCTGCAA	NP_056199.2:p.Gln2565=
NM_133433.3:c.7695_7720delinsGAAGTACTCTCCATCTGAATCTGCAA	NP_597677.2:p.Gln2565=
XM_005248280.2:c.7695_7720delinsGAAGTACTCTCCATCTGAATCTGCAA	XP_005248337.1:p.Gln2565=
XM_005248282.3:c.6951_6976delinsGAAGTACTCTCCATCTGAATCTGCAA	XP_005248339.2:p.Gln2317=
XM_006714467.2:c.7548_7573delinsGAAGTACTCTCCATCTGAATCTGCAA	XP_006714530.1:p.Gln2516=
XM_006714468.1:c.7497_7522delinsGAAGTACTCTCCATCTGAATCTGCAA	XP_006714531.1:p.Gln2499=
XM_011514014.1:c.7314_7339delinsGAAGTACTCTCCATCTGAATCTGCAA	XP_011512316.1:p.Gln2438=
XM_011514015.1:c.*7_*32delinsGAAGTACTCTCCATCTGAATCTGCAA	XP_011512317.1:n.*7_*32delinsGAAGTACTCTCCATCTGAATCTGCAA
XM_005248280.3:c.7695_7720delinsGAAGTACTCTCCATCTGAATCTGCAA	XP_005248337.1:p.Gln2565=
XM_005248282.5:c.7035_7060delinsGAAGTACTCTCCATCTGAATCTGCAA	XP_005248339.3:p.Gln2345=
XM_006714468.2:c.7497_7522delinsGAAGTACTCTCCATCTGAATCTGCAA	XP_006714531.1:p.Gln2499=
XM_017009329.1:c.7548_7573delinsGAAGTACTCTCCATCTGAATCTGCAA	XP_016864818.1:p.Gln2516=
XM_017009330.2:c.6078_6103delinsGAAGTACTCTCCATCTGAATCTGCAA	XP_016864819.1:p.Gln2026=
XM_017009331.1:c.6069_6094delinsGAAGTACTCTCCATCTGAATCTGCAA	XP_016864820.1:p.Gln2023=
NM_133433.4:c.7695_7720delinsGAAGTACTCTCCATCTGAATCTGCAA MANE Select	NP_597677.2:p.Gln2565=
NM_015384.5:c.7695_7720delinsGAAGTACTCTCCATCTGAATCTGCAA	NP_056199.2:p.Gln2565=