Canonical Allele Identifier: CA1539593047

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995829_36995834delinsATTATT , CM000667.2:g.36995829_36995834delinsATTATT	GRCh38
NC_000005.9:g.36995931_36995936delinsATTATT , CM000667.1:g.36995931_36995936delinsATTATT	GRCh37
NC_000005.8:g.37031688_37031693delinsATTATT	NCBI36
NG_006987.1:g.123947_123952delinsATTATT
NG_006987.2:g.123947_123952delinsATTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+25_3304+30delinsATTATT MANE Select	ENSP00000282516.8:n.3304+25_3304+30delinsATTATT
ENST00000652901.1:c.3304+25_3304+30delinsATTATT	ENSP00000499536.1:n.3304+25_3304+30delinsATTATT
ENST00000282516.12:c.3304+25_3304+30delinsATTATT	ENSP00000282516.8:n.3304+25_3304+30delinsATTATT
ENST00000448238.2:c.3304+25_3304+30delinsATTATT	ENSP00000406266.2:n.3304+25_3304+30delinsATTATT
ENST00000503274.1:n.655+25_655+30delinsATTATT
ENST00000504430.5:n.2924+25_2924+30delinsATTATT
ENST00000509429.1:n.55+25_55+30delinsATTATT
ENST00000621733.1:c.1-68749_1-68744delinsATTATT	ENSP00000480694.1:n.1-68749_1-68744delinsATTATT
NM_015384.4:c.3304+25_3304+30delinsATTATT	NP_056199.2:n.3304+25_3304+30delinsATTATT
NM_133433.3:c.3304+25_3304+30delinsATTATT	NP_597677.2:n.3304+25_3304+30delinsATTATT
XM_005248280.2:c.3304+25_3304+30delinsATTATT	XP_005248337.1:n.3304+25_3304+30delinsATTATT
XM_005248282.3:c.2560+25_2560+30delinsATTATT	XP_005248339.2:n.2560+25_2560+30delinsATTATT
XM_006714467.2:c.3304+25_3304+30delinsATTATT	XP_006714530.1:n.3304+25_3304+30delinsATTATT
XM_006714468.1:c.3304+25_3304+30delinsATTATT	XP_006714531.1:n.3304+25_3304+30delinsATTATT
XM_011514014.1:c.3122-4988_3122-4983delinsATTATT	XP_011512316.1:n.3122-4988_3122-4983delinsATTATT
XM_011514015.1:c.3304+25_3304+30delinsATTATT	XP_011512317.1:n.3304+25_3304+30delinsATTATT
XM_005248280.3:c.3304+25_3304+30delinsATTATT	XP_005248337.1:n.3304+25_3304+30delinsATTATT
XM_005248282.5:c.2644+25_2644+30delinsATTATT	XP_005248339.3:n.2644+25_2644+30delinsATTATT
XM_006714468.2:c.3304+25_3304+30delinsATTATT	XP_006714531.1:n.3304+25_3304+30delinsATTATT
XM_017009329.1:c.3304+25_3304+30delinsATTATT	XP_016864818.1:n.3304+25_3304+30delinsATTATT
XM_017009330.2:c.1687+25_1687+30delinsATTATT	XP_016864819.1:n.1687+25_1687+30delinsATTATT
XM_017009331.1:c.1678+25_1678+30delinsATTATT	XP_016864820.1:n.1678+25_1678+30delinsATTATT
NM_133433.4:c.3304+25_3304+30delinsATTATT MANE Select	NP_597677.2:n.3304+25_3304+30delinsATTATT
NM_015384.5:c.3304+25_3304+30delinsATTATT	NP_056199.2:n.3304+25_3304+30delinsATTATT