Canonical Allele Identifier: CA1539580743

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36984989_36984991delinsGTC , CM000667.2:g.36984989_36984991delinsGTC	GRCh38
NC_000005.9:g.36985091_36985093delinsGTC , CM000667.1:g.36985091_36985093delinsGTC	GRCh37
NC_000005.8:g.37020848_37020850delinsGTC	NCBI36
NG_006987.1:g.113107_113109delinsGTC
NG_006987.2:g.113107_113109delinsGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.1809_1811delinsGTC MANE Select	ENSP00000282516.8:p.Lys603=
ENST00000652901.1:c.1809_1811delinsGTC	ENSP00000499536.1:p.Lys603=
ENST00000282516.12:c.1809_1811delinsGTC	ENSP00000282516.8:p.Lys603=
ENST00000448238.2:c.1809_1811delinsGTC	ENSP00000406266.2:p.Lys603=
ENST00000504430.5:n.1429_1431delinsGTC
ENST00000621733.1:c.1-79589_1-79587delinsGTC	ENSP00000480694.1:n.1-79589_1-79587delins...
NM_015384.4:c.1809_1811delinsGTC	NP_056199.2:p.Lys603=
NM_133433.3:c.1809_1811delinsGTC	NP_597677.2:p.Lys603=
XM_005248280.2:c.1809_1811delinsGTC	XP_005248337.1:p.Lys603=
XM_005248282.3:c.1065_1067delinsGTC	XP_005248339.2:p.Lys355=
XM_006714467.2:c.1809_1811delinsGTC	XP_006714530.1:p.Lys603=
XM_006714468.1:c.1809_1811delinsGTC	XP_006714531.1:p.Lys603=
XM_011514014.1:c.1809_1811delinsGTC	XP_011512316.1:p.Lys603=
XM_011514015.1:c.1809_1811delinsGTC	XP_011512317.1:p.Lys603=
XM_005248280.3:c.1809_1811delinsGTC	XP_005248337.1:p.Lys603=
XM_005248282.5:c.1149_1151delinsGTC	XP_005248339.3:p.Lys383=
XM_006714468.2:c.1809_1811delinsGTC	XP_006714531.1:p.Lys603=
XM_017009329.1:c.1809_1811delinsGTC	XP_016864818.1:p.Lys603=
XM_017009330.2:c.192_194delinsGTC	XP_016864819.1:p.Lys64=
XM_017009331.1:c.1495+8587_1495+8589delinsGTC	XP_016864820.1:n.1495+8587_1495+8589delin...
NM_133433.4:c.1809_1811delinsGTC MANE Select	NP_597677.2:p.Lys603=
NM_015384.5:c.1809_1811delinsGTC	NP_056199.2:p.Lys603=