Canonical Allele Identifier: CA1539568209

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049016_37049018delinsGTT , CM000667.2:g.37049016_37049018delinsGTT	GRCh38
NC_000005.9:g.37049118_37049120delinsGTT , CM000667.1:g.37049118_37049120delinsGTT	GRCh37
NC_000005.8:g.37084875_37084877delinsGTT	NCBI36
NG_006987.1:g.177134_177136delinsGTT
NG_006987.2:g.177134_177136delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6764-95_6764-93delinsGTT MANE Select	ENSP00000282516.8:n.6764-95_6764-93delinsGTT
ENST00000652901.1:c.6764-95_6764-93delinsGTT	ENSP00000499536.1:n.6764-95_6764-93delinsGTT
ENST00000282516.12:c.6764-95_6764-93delinsGTT	ENSP00000282516.8:n.6764-95_6764-93delinsGTT
ENST00000448238.2:c.6764-95_6764-93delinsGTT	ENSP00000406266.2:n.6764-95_6764-93delinsGTT
ENST00000621733.1:c.1-15562_1-15560delinsGTT	ENSP00000480694.1:n.1-15562_1-15560delinsGTT
NM_015384.4:c.6764-95_6764-93delinsGTT	NP_056199.2:n.6764-95_6764-93delinsGTT
NM_133433.3:c.6764-95_6764-93delinsGTT	NP_597677.2:n.6764-95_6764-93delinsGTT
XM_005248280.2:c.6764-95_6764-93delinsGTT	XP_005248337.1:n.6764-95_6764-93delinsGTT
XM_005248282.3:c.6020-95_6020-93delinsGTT	XP_005248339.2:n.6020-95_6020-93delinsGTT
XM_006714467.2:c.6764-95_6764-93delinsGTT	XP_006714530.1:n.6764-95_6764-93delinsGTT
XM_006714468.1:c.6566-95_6566-93delinsGTT	XP_006714531.1:n.6566-95_6566-93delinsGTT
XM_011514014.1:c.6383-95_6383-93delinsGTT	XP_011512316.1:n.6383-95_6383-93delinsGTT
XM_011514015.1:c.6764-95_6764-93delinsGTT	XP_011512317.1:n.6764-95_6764-93delinsGTT
XM_005248280.3:c.6764-95_6764-93delinsGTT	XP_005248337.1:n.6764-95_6764-93delinsGTT
XM_005248282.5:c.6104-95_6104-93delinsGTT	XP_005248339.3:n.6104-95_6104-93delinsGTT
XM_006714468.2:c.6566-95_6566-93delinsGTT	XP_006714531.1:n.6566-95_6566-93delinsGTT
XM_017009329.1:c.6764-95_6764-93delinsGTT	XP_016864818.1:n.6764-95_6764-93delinsGTT
XM_017009330.2:c.5147-95_5147-93delinsGTT	XP_016864819.1:n.5147-95_5147-93delinsGTT
XM_017009331.1:c.5138-95_5138-93delinsGTT	XP_016864820.1:n.5138-95_5138-93delinsGTT
NM_133433.4:c.6764-95_6764-93delinsGTT MANE Select	NP_597677.2:n.6764-95_6764-93delinsGTT
NM_015384.5:c.6764-95_6764-93delinsGTT	NP_056199.2:n.6764-95_6764-93delinsGTT