Canonical Allele Identifier: CA2765898193

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995865_36995866insAAA , CM000667.2:g.36995865_36995866insAAA	GRCh38
NC_000005.9:g.36995967_36995968insAAA , CM000667.1:g.36995967_36995968insAAA	GRCh37
NC_000005.8:g.37031724_37031725insAAA	NCBI36
NG_006987.1:g.123983_123984insAAA
NG_006987.2:g.123983_123984insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+61_3304+62insAAA MANE Select	ENSP00000282516.8:n.3304+61_3304+62insAAA
ENST00000652901.1:c.3304+61_3304+62insAAA	ENSP00000499536.1:n.3304+61_3304+62insAAA
ENST00000282516.12:c.3304+61_3304+62insAAA	ENSP00000282516.8:n.3304+61_3304+62insAAA
ENST00000448238.2:c.3304+61_3304+62insAAA	ENSP00000406266.2:n.3304+61_3304+62insAAA
ENST00000503274.1:n.655+61_655+62insAAA
ENST00000504430.5:n.2924+61_2924+62insAAA
ENST00000509429.1:n.55+61_55+62insAAA
ENST00000621733.1:c.1-68713_1-68712insAAA	ENSP00000480694.1:n.1-68713_1-68712insAAA
NM_015384.4:c.3304+61_3304+62insAAA	NP_056199.2:n.3304+61_3304+62insAAA
NM_133433.3:c.3304+61_3304+62insAAA	NP_597677.2:n.3304+61_3304+62insAAA
XM_005248280.2:c.3304+61_3304+62insAAA	XP_005248337.1:n.3304+61_3304+62insAAA
XM_005248282.3:c.2560+61_2560+62insAAA	XP_005248339.2:n.2560+61_2560+62insAAA
XM_006714467.2:c.3304+61_3304+62insAAA	XP_006714530.1:n.3304+61_3304+62insAAA
XM_006714468.1:c.3304+61_3304+62insAAA	XP_006714531.1:n.3304+61_3304+62insAAA
XM_011514014.1:c.3122-4952_3122-4951insAAA	XP_011512316.1:n.3122-4952_3122-4951insAAA
XM_011514015.1:c.3304+61_3304+62insAAA	XP_011512317.1:n.3304+61_3304+62insAAA
XM_005248280.3:c.3304+61_3304+62insAAA	XP_005248337.1:n.3304+61_3304+62insAAA
XM_005248282.5:c.2644+61_2644+62insAAA	XP_005248339.3:n.2644+61_2644+62insAAA
XM_006714468.2:c.3304+61_3304+62insAAA	XP_006714531.1:n.3304+61_3304+62insAAA
XM_017009329.1:c.3304+61_3304+62insAAA	XP_016864818.1:n.3304+61_3304+62insAAA
XM_017009330.2:c.1687+61_1687+62insAAA	XP_016864819.1:n.1687+61_1687+62insAAA
XM_017009331.1:c.1678+61_1678+62insAAA	XP_016864820.1:n.1678+61_1678+62insAAA
NM_133433.4:c.3304+61_3304+62insAAA MANE Select	NP_597677.2:n.3304+61_3304+62insAAA
NM_015384.5:c.3304+61_3304+62insAAA	NP_056199.2:n.3304+61_3304+62insAAA