Canonical Allele Identifier: CA1539579989

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36984582_36984587delinsATAACC , CM000667.2:g.36984582_36984587delinsATAACC	GRCh38
NC_000005.9:g.36984684_36984689delinsATAACC , CM000667.1:g.36984684_36984689delinsATAACC	GRCh37
NC_000005.8:g.37020441_37020446delinsATAACC	NCBI36
NG_006987.1:g.112700_112705delinsATAACC
NG_006987.2:g.112700_112705delinsATAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1496-94_1496-89delinsATAACC MANE Select	ENSP00000282516.8:n.1496-94_1496-89delinsATAACC
ENST00000652901.1:c.1496-94_1496-89delinsATAACC	ENSP00000499536.1:n.1496-94_1496-89delinsATAACC
ENST00000282516.12:c.1496-94_1496-89delinsATAACC	ENSP00000282516.8:n.1496-94_1496-89delinsATAACC
ENST00000448238.2:c.1496-94_1496-89delinsATAACC	ENSP00000406266.2:n.1496-94_1496-89delinsATAACC
ENST00000504430.5:n.1116-94_1116-89delinsATAACC
ENST00000621733.1:c.1-79996_1-79991delinsATAACC	ENSP00000480694.1:n.1-79996_1-79991delinsATAACC
NM_015384.4:c.1496-94_1496-89delinsATAACC	NP_056199.2:n.1496-94_1496-89delinsATAACC
NM_133433.3:c.1496-94_1496-89delinsATAACC	NP_597677.2:n.1496-94_1496-89delinsATAACC
XM_005248280.2:c.1496-94_1496-89delinsATAACC	XP_005248337.1:n.1496-94_1496-89delinsATAACC
XM_005248282.3:c.752-94_752-89delinsATAACC	XP_005248339.2:n.752-94_752-89delinsATAACC
XM_006714467.2:c.1496-94_1496-89delinsATAACC	XP_006714530.1:n.1496-94_1496-89delinsATAACC
XM_006714468.1:c.1496-94_1496-89delinsATAACC	XP_006714531.1:n.1496-94_1496-89delinsATAACC
XM_011514014.1:c.1496-94_1496-89delinsATAACC	XP_011512316.1:n.1496-94_1496-89delinsATAACC
XM_011514015.1:c.1496-94_1496-89delinsATAACC	XP_011512317.1:n.1496-94_1496-89delinsATAACC
XM_005248280.3:c.1496-94_1496-89delinsATAACC	XP_005248337.1:n.1496-94_1496-89delinsATAACC
XM_005248282.5:c.836-94_836-89delinsATAACC	XP_005248339.3:n.836-94_836-89delinsATAACC
XM_006714468.2:c.1496-94_1496-89delinsATAACC	XP_006714531.1:n.1496-94_1496-89delinsATAACC
XM_017009329.1:c.1496-94_1496-89delinsATAACC	XP_016864818.1:n.1496-94_1496-89delinsATAACC
XM_017009330.2:c.-122-94_-122-89delinsATAACC	XP_016864819.1:n.-122-94_-122-89delinsATAACC
XM_017009331.1:c.1495+8180_1495+8185delinsATAACC	XP_016864820.1:n.1495+8180_1495+8185delinsATAACC
NM_133433.4:c.1496-94_1496-89delinsATAACC MANE Select	NP_597677.2:n.1496-94_1496-89delinsATAACC
NM_015384.5:c.1496-94_1496-89delinsATAACC	NP_056199.2:n.1496-94_1496-89delinsATAACC