Canonical Allele Identifier: CA2695204245

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995808_36995811del , CM000667.2:g.36995808_36995811del	GRCh38
NC_000005.9:g.36995910_36995913del , CM000667.1:g.36995910_36995913del	GRCh37
NC_000005.8:g.37031667_37031670del	NCBI36
NG_006987.1:g.123926_123929del
NG_006987.2:g.123926_123929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+4_3304+7del MANE Select	ENSP00000282516.8:n.3304+4_3304+7del
ENST00000652901.1:c.3304+4_3304+7del	ENSP00000499536.1:n.3304+4_3304+7del
ENST00000282516.12:c.3304+4_3304+7del	ENSP00000282516.8:n.3304+4_3304+7del
ENST00000448238.2:c.3304+4_3304+7del	ENSP00000406266.2:n.3304+4_3304+7del
ENST00000503274.1:n.655+4_655+7del
ENST00000504430.5:n.2924+4_2924+7del
ENST00000509429.1:n.55+4_55+7del
ENST00000621733.1:c.1-68770_1-68767del	ENSP00000480694.1:n.1-68770_1-68767del
NM_015384.4:c.3304+4_3304+7del	NP_056199.2:n.3304+4_3304+7del
NM_133433.3:c.3304+4_3304+7del	NP_597677.2:n.3304+4_3304+7del
XM_005248280.2:c.3304+4_3304+7del	XP_005248337.1:n.3304+4_3304+7del
XM_005248282.3:c.2560+4_2560+7del	XP_005248339.2:n.2560+4_2560+7del
XM_006714467.2:c.3304+4_3304+7del	XP_006714530.1:n.3304+4_3304+7del
XM_006714468.1:c.3304+4_3304+7del	XP_006714531.1:n.3304+4_3304+7del
XM_011514014.1:c.3122-5009_3122-5006del	XP_011512316.1:n.3122-5009_3122-5006del
XM_011514015.1:c.3304+4_3304+7del	XP_011512317.1:n.3304+4_3304+7del
XM_005248280.3:c.3304+4_3304+7del	XP_005248337.1:n.3304+4_3304+7del
XM_005248282.5:c.2644+4_2644+7del	XP_005248339.3:n.2644+4_2644+7del
XM_006714468.2:c.3304+4_3304+7del	XP_006714531.1:n.3304+4_3304+7del
XM_017009329.1:c.3304+4_3304+7del	XP_016864818.1:n.3304+4_3304+7del
XM_017009330.2:c.1687+4_1687+7del	XP_016864819.1:n.1687+4_1687+7del
XM_017009331.1:c.1678+4_1678+7del	XP_016864820.1:n.1678+4_1678+7del
NM_133433.4:c.3304+4_3304+7del MANE Select	NP_597677.2:n.3304+4_3304+7del
NM_015384.5:c.3304+4_3304+7del	NP_056199.2:n.3304+4_3304+7del