Canonical Allele Identifier: CA1539580714

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36984980_36984981delinsTA , CM000667.2:g.36984980_36984981delinsTA	GRCh38
NC_000005.9:g.36985082_36985083delinsTA , CM000667.1:g.36985082_36985083delinsTA	GRCh37
NC_000005.8:g.37020839_37020840delinsTA	NCBI36
NG_006987.1:g.113098_113099delinsTA
NG_006987.2:g.113098_113099delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1800_1801delinsTA MANE Select	ENSP00000282516.8:p.Pro600=
ENST00000652901.1:c.1800_1801delinsTA	ENSP00000499536.1:p.Pro600=
ENST00000282516.12:c.1800_1801delinsTA	ENSP00000282516.8:p.Pro600=
ENST00000448238.2:c.1800_1801delinsTA	ENSP00000406266.2:p.Pro600=
ENST00000504430.5:n.1420_1421delinsTA
ENST00000621733.1:c.1-79598_1-79597delinsTA	ENSP00000480694.1:n.1-79598_1-79597delinsTA
NM_015384.4:c.1800_1801delinsTA	NP_056199.2:p.Pro600=
NM_133433.3:c.1800_1801delinsTA	NP_597677.2:p.Pro600=
XM_005248280.2:c.1800_1801delinsTA	XP_005248337.1:p.Pro600=
XM_005248282.3:c.1056_1057delinsTA	XP_005248339.2:p.Pro352=
XM_006714467.2:c.1800_1801delinsTA	XP_006714530.1:p.Pro600=
XM_006714468.1:c.1800_1801delinsTA	XP_006714531.1:p.Pro600=
XM_011514014.1:c.1800_1801delinsTA	XP_011512316.1:p.Pro600=
XM_011514015.1:c.1800_1801delinsTA	XP_011512317.1:p.Pro600=
XM_005248280.3:c.1800_1801delinsTA	XP_005248337.1:p.Pro600=
XM_005248282.5:c.1140_1141delinsTA	XP_005248339.3:p.Pro380=
XM_006714468.2:c.1800_1801delinsTA	XP_006714531.1:p.Pro600=
XM_017009329.1:c.1800_1801delinsTA	XP_016864818.1:p.Pro600=
XM_017009330.2:c.183_184delinsTA	XP_016864819.1:p.Pro61=
XM_017009331.1:c.1495+8578_1495+8579delinsTA	XP_016864820.1:n.1495+8578_1495+8579delinsTA
NM_133433.4:c.1800_1801delinsTA MANE Select	NP_597677.2:p.Pro600=
NM_015384.5:c.1800_1801delinsTA	NP_056199.2:p.Pro600=