Canonical Allele Identifier: CA1539619138

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020479_37020486delinsAGCCCAGT , CM000667.2:g.37020479_37020486delinsAGCCCAGT	GRCh38
NC_000005.9:g.37020581_37020588delinsAGCCCAGT , CM000667.1:g.37020581_37020588delinsAGCCCAGT	GRCh37
NC_000005.8:g.37056338_37056345delinsAGCCCAGT	NCBI36
NG_006987.1:g.148597_148604delinsAGCCCAGT
NG_006987.2:g.148597_148604delinsAGCCCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5031_5038delinsAGCCCAGT MANE Select	ENSP00000282516.8:p.Ile1677=
ENST00000652901.1:c.5031_5038delinsAGCCCAGT	ENSP00000499536.1:p.Ile1677=
ENST00000282516.12:c.5031_5038delinsAGCCCAGT	ENSP00000282516.8:p.Ile1677=
ENST00000448238.2:c.5031_5038delinsAGCCCAGT	ENSP00000406266.2:p.Ile1677=
ENST00000621733.1:c.1-44099_1-44092delinsAGCCCAGT	ENSP00000480694.1:n.1-44099_1-44092delinsAGCCCAGT
NM_015384.4:c.5031_5038delinsAGCCCAGT	NP_056199.2:p.Ile1677=
NM_133433.3:c.5031_5038delinsAGCCCAGT	NP_597677.2:p.Ile1677=
XM_005248280.2:c.5031_5038delinsAGCCCAGT	XP_005248337.1:p.Ile1677=
XM_005248282.3:c.4287_4294delinsAGCCCAGT	XP_005248339.2:p.Ile1429=
XM_006714467.2:c.5031_5038delinsAGCCCAGT	XP_006714530.1:p.Ile1677=
XM_006714468.1:c.4833_4840delinsAGCCCAGT	XP_006714531.1:p.Ile1611=
XM_011514014.1:c.4650_4657delinsAGCCCAGT	XP_011512316.1:p.Ile1550=
XM_011514015.1:c.5031_5038delinsAGCCCAGT	XP_011512317.1:p.Ile1677=
XM_005248280.3:c.5031_5038delinsAGCCCAGT	XP_005248337.1:p.Ile1677=
XM_005248282.5:c.4371_4378delinsAGCCCAGT	XP_005248339.3:p.Ile1457=
XM_006714468.2:c.4833_4840delinsAGCCCAGT	XP_006714531.1:p.Ile1611=
XM_017009329.1:c.5031_5038delinsAGCCCAGT	XP_016864818.1:p.Ile1677=
XM_017009330.2:c.3414_3421delinsAGCCCAGT	XP_016864819.1:p.Ile1138=
XM_017009331.1:c.3405_3412delinsAGCCCAGT	XP_016864820.1:p.Ile1135=
NM_133433.4:c.5031_5038delinsAGCCCAGT MANE Select	NP_597677.2:p.Ile1677=
NM_015384.5:c.5031_5038delinsAGCCCAGT	NP_056199.2:p.Ile1677=