Canonical Allele Identifier: CA2839816882

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36975804_36975854del , CM000667.2:g.36975804_36975854del	GRCh38
NC_000005.9:g.36975906_36975956del , CM000667.1:g.36975906_36975956del	GRCh37
NC_000005.8:g.37011663_37011713del	NCBI36
NG_006987.1:g.103922_103972del
NG_006987.2:g.103922_103972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.897_947del MANE Select	ENSP00000282516.8:p.Gln300_Leu316del
ENST00000652901.1:c.897_947del	ENSP00000499536.1:p.Gln300_Leu316del
ENST00000282516.12:c.897_947del	ENSP00000282516.8:p.Gln300_Leu316del
ENST00000448238.2:c.897_947del	ENSP00000406266.2:p.Gln300_Leu316del
ENST00000504430.5:n.517_567del
ENST00000505998.5:n.876_926del
ENST00000621733.1:c.1-88774_1-88724del	ENSP00000480694.1:n.1-88774_1-88724del
NM_015384.4:c.897_947del	NP_056199.2:p.Gln300_Leu316del
NM_133433.3:c.897_947del	NP_597677.2:p.Gln300_Leu316del
XM_005248280.2:c.897_947del	XP_005248337.1:p.Gln300_Leu316del
XM_005248282.3:c.153_203del	XP_005248339.2:p.Gln52_Leu68del
XM_006714467.2:c.897_947del	XP_006714530.1:p.Gln300_Leu316del
XM_006714468.1:c.897_947del	XP_006714531.1:p.Gln300_Leu316del
XM_011514014.1:c.897_947del	XP_011512316.1:p.Gln300_Leu316del
XM_011514015.1:c.897_947del	XP_011512317.1:p.Gln300_Leu316del
XM_005248280.3:c.897_947del	XP_005248337.1:p.Gln300_Leu316del
XM_005248282.5:c.237_287del	XP_005248339.3:p.Gln80_Leu96del
XM_006714468.2:c.897_947del	XP_006714531.1:p.Gln300_Leu316del
XM_017009329.1:c.897_947del	XP_016864818.1:p.Gln300_Leu316del
XM_017009331.1:c.897_947del	XP_016864820.1:p.Gln300_Leu316del
NM_133433.4:c.897_947del MANE Select	NP_597677.2:p.Gln300_Leu316del
NM_015384.5:c.897_947del	NP_056199.2:p.Gln300_Leu316del