Canonical Allele Identifier: CA2983484597

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045591_37045592insTAATAAAGATA , CM000667.2:g.37045591_37045592insTAATAAAGATA	GRCh38
NC_000005.9:g.37045693_37045694insTAATAAAGATA , CM000667.1:g.37045693_37045694insTAATAAAGATA	GRCh37
NC_000005.8:g.37081450_37081451insTAATAAAGATA	NCBI36
NG_006987.1:g.173709_173710insTAATAAAGATA
NG_006987.2:g.173709_173710insTAATAAAGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6492_6493insTAATAAAGATA MANE Select	ENSP00000282516.8:p.Ser2165Ter
ENST00000652901.1:c.6492_6493insTAATAAAGATA	ENSP00000499536.1:p.Ser2165Ter
ENST00000282516.12:c.6492_6493insTAATAAAGATA	ENSP00000282516.8:p.Ser2165Ter
ENST00000448238.2:c.6492_6493insTAATAAAGATA	ENSP00000406266.2:p.Ser2165Ter
ENST00000621733.1:c.1-18987_1-18986insTAATAAAGATA	ENSP00000480694.1:n.1-18987_1-18986insTAATAAAGATA
NM_015384.4:c.6492_6493insTAATAAAGATA	NP_056199.2:p.Ser2165Ter
NM_133433.3:c.6492_6493insTAATAAAGATA	NP_597677.2:p.Ser2165Ter
XM_005248280.2:c.6492_6493insTAATAAAGATA	XP_005248337.1:p.Ser2165Ter
XM_005248282.3:c.5748_5749insTAATAAAGATA	XP_005248339.2:p.Ser1917Ter
XM_006714467.2:c.6492_6493insTAATAAAGATA	XP_006714530.1:p.Ser2165Ter
XM_006714468.1:c.6294_6295insTAATAAAGATA	XP_006714531.1:p.Ser2099Ter
XM_011514014.1:c.6111_6112insTAATAAAGATA	XP_011512316.1:p.Ser2038Ter
XM_011514015.1:c.6492_6493insTAATAAAGATA	XP_011512317.1:p.Ser2165Ter
XM_005248280.3:c.6492_6493insTAATAAAGATA	XP_005248337.1:p.Ser2165Ter
XM_005248282.5:c.5832_5833insTAATAAAGATA	XP_005248339.3:p.Ser1945Ter
XM_006714468.2:c.6294_6295insTAATAAAGATA	XP_006714531.1:p.Ser2099Ter
XM_017009329.1:c.6492_6493insTAATAAAGATA	XP_016864818.1:p.Ser2165Ter
XM_017009330.2:c.4875_4876insTAATAAAGATA	XP_016864819.1:p.Ser1626Ter
XM_017009331.1:c.4866_4867insTAATAAAGATA	XP_016864820.1:p.Ser1623Ter
NM_133433.4:c.6492_6493insTAATAAAGATA MANE Select	NP_597677.2:p.Ser2165Ter
NM_015384.5:c.6492_6493insTAATAAAGATA	NP_056199.2:p.Ser2165Ter