Canonical Allele Identifier: CA2695204348

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020655_37020670del , CM000667.2:g.37020655_37020670del	GRCh38
NC_000005.9:g.37020757_37020772del , CM000667.1:g.37020757_37020772del	GRCh37
NC_000005.8:g.37056514_37056529del	NCBI36
NG_006987.1:g.148773_148788del
NG_006987.2:g.148773_148788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5207_5222del MANE Select	ENSP00000282516.8:p.Ser1736Ter
ENST00000652901.1:c.5207_5222del	ENSP00000499536.1:p.Ser1736Ter
ENST00000282516.12:c.5207_5222del	ENSP00000282516.8:p.Ser1736Ter
ENST00000448238.2:c.5207_5222del	ENSP00000406266.2:p.Ser1736Ter
ENST00000621733.1:c.1-43923_1-43908del	ENSP00000480694.1:n.1-43923_1-43908del
NM_015384.4:c.5207_5222del	NP_056199.2:p.Ser1736Ter
NM_133433.3:c.5207_5222del	NP_597677.2:p.Ser1736Ter
XM_005248280.2:c.5207_5222del	XP_005248337.1:p.Ser1736Ter
XM_005248282.3:c.4463_4478del	XP_005248339.2:p.Ser1488Ter
XM_006714467.2:c.5207_5222del	XP_006714530.1:p.Ser1736Ter
XM_006714468.1:c.5009_5024del	XP_006714531.1:p.Ser1670Ter
XM_011514014.1:c.4826_4841del	XP_011512316.1:p.Ser1609Ter
XM_011514015.1:c.5207_5222del	XP_011512317.1:p.Ser1736Ter
XM_005248280.3:c.5207_5222del	XP_005248337.1:p.Ser1736Ter
XM_005248282.5:c.4547_4562del	XP_005248339.3:p.Ser1516Ter
XM_006714468.2:c.5009_5024del	XP_006714531.1:p.Ser1670Ter
XM_017009329.1:c.5207_5222del	XP_016864818.1:p.Ser1736Ter
XM_017009330.2:c.3590_3605del	XP_016864819.1:p.Ser1197Ter
XM_017009331.1:c.3581_3596del	XP_016864820.1:p.Ser1194Ter
NM_133433.4:c.5207_5222del MANE Select	NP_597677.2:p.Ser1736Ter
NM_015384.5:c.5207_5222del	NP_056199.2:p.Ser1736Ter