Canonical Allele Identifier: CA2578289158

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36985305-A-AGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985307_36985309dup , CM000667.2:g.36985307_36985309dup	GRCh38
NC_000005.9:g.36985409_36985411dup , CM000667.1:g.36985409_36985411dup	GRCh37
NC_000005.8:g.37021166_37021168dup	NCBI36
NG_006987.1:g.113425_113427dup
NG_006987.2:g.113425_113427dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2127_2129dup MANE Select	ENSP00000282516.8:p.Arg710_Pro711insArg
ENST00000652901.1:c.2127_2129dup	ENSP00000499536.1:p.Arg710_Pro711insArg
ENST00000282516.12:c.2127_2129dup	ENSP00000282516.8:p.Arg710_Pro711insArg
ENST00000448238.2:c.2127_2129dup	ENSP00000406266.2:p.Arg710_Pro711insArg
ENST00000504430.5:n.1747_1749dup
ENST00000621733.1:c.1-79271_1-79269dup	ENSP00000480694.1:n.1-79271_1-79269dup
NM_015384.4:c.2127_2129dup	NP_056199.2:p.Arg710_Pro711insArg
NM_133433.3:c.2127_2129dup	NP_597677.2:p.Arg710_Pro711insArg
XM_005248280.2:c.2127_2129dup	XP_005248337.1:p.Arg710_Pro711insArg
XM_005248282.3:c.1383_1385dup	XP_005248339.2:p.Arg462_Pro463insArg
XM_006714467.2:c.2127_2129dup	XP_006714530.1:p.Arg710_Pro711insArg
XM_006714468.1:c.2127_2129dup	XP_006714531.1:p.Arg710_Pro711insArg
XM_011514014.1:c.2127_2129dup	XP_011512316.1:p.Arg710_Pro711insArg
XM_011514015.1:c.2127_2129dup	XP_011512317.1:p.Arg710_Pro711insArg
XM_005248280.3:c.2127_2129dup	XP_005248337.1:p.Arg710_Pro711insArg
XM_005248282.5:c.1467_1469dup	XP_005248339.3:p.Arg490_Pro491insArg
XM_006714468.2:c.2127_2129dup	XP_006714531.1:p.Arg710_Pro711insArg
XM_017009329.1:c.2127_2129dup	XP_016864818.1:p.Arg710_Pro711insArg
XM_017009330.2:c.510_512dup	XP_016864819.1:p.Arg171_Pro172insArg
XM_017009331.1:c.1495+8905_1495+8907dup	XP_016864820.1:n.1495+8905_1495+8907dup
NM_133433.4:c.2127_2129dup MANE Select	NP_597677.2:p.Arg710_Pro711insArg
NM_015384.5:c.2127_2129dup	NP_056199.2:p.Arg710_Pro711insArg