Canonical Allele Identifier: CA2765899386

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36953888_36953890del , CM000667.2:g.36953888_36953890del	GRCh38
NC_000005.9:g.36953990_36953992del , CM000667.1:g.36953990_36953992del	GRCh37
NC_000005.8:g.36989747_36989749del	NCBI36
NG_006987.1:g.82006_82008del
NG_006987.2:g.82006_82008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.64+128_64+130del MANE Select	ENSP00000282516.8:n.64+128_64+130del
ENST00000652901.1:c.64+128_64+130del	ENSP00000499536.1:n.64+128_64+130del
ENST00000282516.12:c.64+128_64+130del	ENSP00000282516.8:n.64+128_64+130del
ENST00000448238.2:c.64+128_64+130del	ENSP00000406266.2:n.64+128_64+130del
ENST00000621733.1:c.-1+76866_-1+76868del	ENSP00000480694.1:n.-1+76866_-1+76868del
NM_015384.4:c.64+128_64+130del	NP_056199.2:n.64+128_64+130del
NM_133433.3:c.64+128_64+130del	NP_597677.2:n.64+128_64+130del
XM_005248280.2:c.64+128_64+130del	XP_005248337.1:n.64+128_64+130del
XM_006714467.2:c.64+128_64+130del	XP_006714530.1:n.64+128_64+130del
XM_006714468.1:c.64+128_64+130del	XP_006714531.1:n.64+128_64+130del
XM_011514014.1:c.64+128_64+130del	XP_011512316.1:n.64+128_64+130del
XM_011514015.1:c.64+128_64+130del	XP_011512317.1:n.64+128_64+130del
XM_005248280.3:c.64+128_64+130del	XP_005248337.1:n.64+128_64+130del
XM_006714468.2:c.64+128_64+130del	XP_006714531.1:n.64+128_64+130del
XM_017009329.1:c.64+128_64+130del	XP_016864818.1:n.64+128_64+130del
XM_017009331.1:c.64+128_64+130del	XP_016864820.1:n.64+128_64+130del
NM_133433.4:c.64+128_64+130del MANE Select	NP_597677.2:n.64+128_64+130del
NM_015384.5:c.64+128_64+130del	NP_056199.2:n.64+128_64+130del