Canonical Allele Identifier: CA2695204344

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020478_37020479del , CM000667.2:g.37020478_37020479del	GRCh38
NC_000005.9:g.37020580_37020581del , CM000667.1:g.37020580_37020581del	GRCh37
NC_000005.8:g.37056337_37056338del	NCBI36
NG_006987.1:g.148596_148597del
NG_006987.2:g.148596_148597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5030_5031del MANE Select	ENSP00000282516.8:p.Ile1677SerfsTer21
ENST00000652901.1:c.5030_5031del	ENSP00000499536.1:p.Ile1677SerfsTer21
ENST00000282516.12:c.5030_5031del	ENSP00000282516.8:p.Ile1677SerfsTer21
ENST00000448238.2:c.5030_5031del	ENSP00000406266.2:p.Ile1677SerfsTer21
ENST00000621733.1:c.1-44100_1-44099del	ENSP00000480694.1:n.1-44100_1-44099del
NM_015384.4:c.5030_5031del	NP_056199.2:p.Ile1677SerfsTer21
NM_133433.3:c.5030_5031del	NP_597677.2:p.Ile1677SerfsTer21
XM_005248280.2:c.5030_5031del	XP_005248337.1:p.Ile1677SerfsTer21
XM_005248282.3:c.4286_4287del	XP_005248339.2:p.Ile1429SerfsTer21
XM_006714467.2:c.5030_5031del	XP_006714530.1:p.Ile1677SerfsTer21
XM_006714468.1:c.4832_4833del	XP_006714531.1:p.Ile1611SerfsTer21
XM_011514014.1:c.4649_4650del	XP_011512316.1:p.Ile1550SerfsTer21
XM_011514015.1:c.5030_5031del	XP_011512317.1:p.Ile1677SerfsTer21
XM_005248280.3:c.5030_5031del	XP_005248337.1:p.Ile1677SerfsTer21
XM_005248282.5:c.4370_4371del	XP_005248339.3:p.Ile1457SerfsTer21
XM_006714468.2:c.4832_4833del	XP_006714531.1:p.Ile1611SerfsTer21
XM_017009329.1:c.5030_5031del	XP_016864818.1:p.Ile1677SerfsTer21
XM_017009330.2:c.3413_3414del	XP_016864819.1:p.Ile1138SerfsTer21
XM_017009331.1:c.3404_3405del	XP_016864820.1:p.Ile1135SerfsTer21
NM_133433.4:c.5030_5031del MANE Select	NP_597677.2:p.Ile1677SerfsTer21
NM_015384.5:c.5030_5031del	NP_056199.2:p.Ile1677SerfsTer21