Canonical Allele Identifier: CA1539593036

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995826_36995830delinsGTTAT , CM000667.2:g.36995826_36995830delinsGTTAT	GRCh38
NC_000005.9:g.36995928_36995932delinsGTTAT , CM000667.1:g.36995928_36995932delinsGTTAT	GRCh37
NC_000005.8:g.37031685_37031689delinsGTTAT	NCBI36
NG_006987.1:g.123944_123948delinsGTTAT
NG_006987.2:g.123944_123948delinsGTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+22_3304+26delinsGTTAT MANE Select	ENSP00000282516.8:n.3304+22_3304+26delinsGTTAT
ENST00000652901.1:c.3304+22_3304+26delinsGTTAT	ENSP00000499536.1:n.3304+22_3304+26delinsGTTAT
ENST00000282516.12:c.3304+22_3304+26delinsGTTAT	ENSP00000282516.8:n.3304+22_3304+26delinsGTTAT
ENST00000448238.2:c.3304+22_3304+26delinsGTTAT	ENSP00000406266.2:n.3304+22_3304+26delinsGTTAT
ENST00000503274.1:n.655+22_655+26delinsGTTAT
ENST00000504430.5:n.2924+22_2924+26delinsGTTAT
ENST00000509429.1:n.55+22_55+26delinsGTTAT
ENST00000621733.1:c.1-68752_1-68748delinsGTTAT	ENSP00000480694.1:n.1-68752_1-68748delinsGTTAT
NM_015384.4:c.3304+22_3304+26delinsGTTAT	NP_056199.2:n.3304+22_3304+26delinsGTTAT
NM_133433.3:c.3304+22_3304+26delinsGTTAT	NP_597677.2:n.3304+22_3304+26delinsGTTAT
XM_005248280.2:c.3304+22_3304+26delinsGTTAT	XP_005248337.1:n.3304+22_3304+26delinsGTTAT
XM_005248282.3:c.2560+22_2560+26delinsGTTAT	XP_005248339.2:n.2560+22_2560+26delinsGTTAT
XM_006714467.2:c.3304+22_3304+26delinsGTTAT	XP_006714530.1:n.3304+22_3304+26delinsGTTAT
XM_006714468.1:c.3304+22_3304+26delinsGTTAT	XP_006714531.1:n.3304+22_3304+26delinsGTTAT
XM_011514014.1:c.3122-4991_3122-4987delinsGTTAT	XP_011512316.1:n.3122-4991_3122-4987delinsGTTAT
XM_011514015.1:c.3304+22_3304+26delinsGTTAT	XP_011512317.1:n.3304+22_3304+26delinsGTTAT
XM_005248280.3:c.3304+22_3304+26delinsGTTAT	XP_005248337.1:n.3304+22_3304+26delinsGTTAT
XM_005248282.5:c.2644+22_2644+26delinsGTTAT	XP_005248339.3:n.2644+22_2644+26delinsGTTAT
XM_006714468.2:c.3304+22_3304+26delinsGTTAT	XP_006714531.1:n.3304+22_3304+26delinsGTTAT
XM_017009329.1:c.3304+22_3304+26delinsGTTAT	XP_016864818.1:n.3304+22_3304+26delinsGTTAT
XM_017009330.2:c.1687+22_1687+26delinsGTTAT	XP_016864819.1:n.1687+22_1687+26delinsGTTAT
XM_017009331.1:c.1678+22_1678+26delinsGTTAT	XP_016864820.1:n.1678+22_1678+26delinsGTTAT
NM_133433.4:c.3304+22_3304+26delinsGTTAT MANE Select	NP_597677.2:n.3304+22_3304+26delinsGTTAT
NM_015384.5:c.3304+22_3304+26delinsGTTAT	NP_056199.2:n.3304+22_3304+26delinsGTTAT