Canonical Allele Identifier: CA1539619060

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020324_37020325delinsGT , CM000667.2:g.37020324_37020325delinsGT	GRCh38
NC_000005.9:g.37020426_37020427delinsGT , CM000667.1:g.37020426_37020427delinsGT	GRCh37
NC_000005.8:g.37056183_37056184delinsGT	NCBI36
NG_006987.1:g.148442_148443delinsGT
NG_006987.2:g.148442_148443delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5011-135_5011-134delinsGT MANE Select	ENSP00000282516.8:n.5011-135_5011-134delinsGT
ENST00000652901.1:c.5011-135_5011-134delinsGT	ENSP00000499536.1:n.5011-135_5011-134delinsGT
ENST00000282516.12:c.5011-135_5011-134delinsGT	ENSP00000282516.8:n.5011-135_5011-134delinsGT
ENST00000448238.2:c.5011-135_5011-134delinsGT	ENSP00000406266.2:n.5011-135_5011-134delinsGT
ENST00000621733.1:c.1-44254_1-44253delinsGT	ENSP00000480694.1:n.1-44254_1-44253delinsGT
NM_015384.4:c.5011-135_5011-134delinsGT	NP_056199.2:n.5011-135_5011-134delinsGT
NM_133433.3:c.5011-135_5011-134delinsGT	NP_597677.2:n.5011-135_5011-134delinsGT
XM_005248280.2:c.5011-135_5011-134delinsGT	XP_005248337.1:n.5011-135_5011-134delinsGT
XM_005248282.3:c.4267-135_4267-134delinsGT	XP_005248339.2:n.4267-135_4267-134delinsGT
XM_006714467.2:c.5011-135_5011-134delinsGT	XP_006714530.1:n.5011-135_5011-134delinsGT
XM_006714468.1:c.4813-135_4813-134delinsGT	XP_006714531.1:n.4813-135_4813-134delinsGT
XM_011514014.1:c.4630-135_4630-134delinsGT	XP_011512316.1:n.4630-135_4630-134delinsGT
XM_011514015.1:c.5011-135_5011-134delinsGT	XP_011512317.1:n.5011-135_5011-134delinsGT
XM_005248280.3:c.5011-135_5011-134delinsGT	XP_005248337.1:n.5011-135_5011-134delinsGT
XM_005248282.5:c.4351-135_4351-134delinsGT	XP_005248339.3:n.4351-135_4351-134delinsGT
XM_006714468.2:c.4813-135_4813-134delinsGT	XP_006714531.1:n.4813-135_4813-134delinsGT
XM_017009329.1:c.5011-135_5011-134delinsGT	XP_016864818.1:n.5011-135_5011-134delinsGT
XM_017009330.2:c.3394-135_3394-134delinsGT	XP_016864819.1:n.3394-135_3394-134delinsGT
XM_017009331.1:c.3385-135_3385-134delinsGT	XP_016864820.1:n.3385-135_3385-134delinsGT
NM_133433.4:c.5011-135_5011-134delinsGT MANE Select	NP_597677.2:n.5011-135_5011-134delinsGT
NM_015384.5:c.5011-135_5011-134delinsGT	NP_056199.2:n.5011-135_5011-134delinsGT