Canonical Allele Identifier: CA1539601771

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37001186_37001189delinsGGTT , CM000667.2:g.37001186_37001189delinsGGTT	GRCh38
NC_000005.9:g.37001288_37001291delinsGGTT , CM000667.1:g.37001288_37001291delinsGGTT	GRCh37
NC_000005.8:g.37037045_37037048delinsGGTT	NCBI36
NG_006987.1:g.129304_129307delinsGGTT
NG_006987.2:g.129304_129307delinsGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3664+108_3664+111delinsGGTT MANE Select	ENSP00000282516.8:n.3664+108_3664+111delinsGGTT
ENST00000652901.1:c.3664+108_3664+111delinsGGTT	ENSP00000499536.1:n.3664+108_3664+111delinsGGTT
ENST00000282516.12:c.3664+108_3664+111delinsGGTT	ENSP00000282516.8:n.3664+108_3664+111delinsGGTT
ENST00000448238.2:c.3664+108_3664+111delinsGGTT	ENSP00000406266.2:n.3664+108_3664+111delinsGGTT
ENST00000621733.1:c.1-63392_1-63389delinsGGTT	ENSP00000480694.1:n.1-63392_1-63389delinsGGTT
NM_015384.4:c.3664+108_3664+111delinsGGTT	NP_056199.2:n.3664+108_3664+111delinsGGTT
NM_133433.3:c.3664+108_3664+111delinsGGTT	NP_597677.2:n.3664+108_3664+111delinsGGTT
XM_005248280.2:c.3664+108_3664+111delinsGGTT	XP_005248337.1:n.3664+108_3664+111delinsGGTT
XM_005248282.3:c.2920+108_2920+111delinsGGTT	XP_005248339.2:n.2920+108_2920+111delinsGGTT
XM_006714467.2:c.3664+108_3664+111delinsGGTT	XP_006714530.1:n.3664+108_3664+111delinsGGTT
XM_006714468.1:c.3466+108_3466+111delinsGGTT	XP_006714531.1:n.3466+108_3466+111delinsGGTT
XM_011514014.1:c.3283+108_3283+111delinsGGTT	XP_011512316.1:n.3283+108_3283+111delinsGGTT
XM_011514015.1:c.3664+108_3664+111delinsGGTT	XP_011512317.1:n.3664+108_3664+111delinsGGTT
XM_005248280.3:c.3664+108_3664+111delinsGGTT	XP_005248337.1:n.3664+108_3664+111delinsGGTT
XM_005248282.5:c.3004+108_3004+111delinsGGTT	XP_005248339.3:n.3004+108_3004+111delinsGGTT
XM_006714468.2:c.3466+108_3466+111delinsGGTT	XP_006714531.1:n.3466+108_3466+111delinsGGTT
XM_017009329.1:c.3664+108_3664+111delinsGGTT	XP_016864818.1:n.3664+108_3664+111delinsGGTT
XM_017009330.2:c.2047+108_2047+111delinsGGTT	XP_016864819.1:n.2047+108_2047+111delinsGGTT
XM_017009331.1:c.2038+108_2038+111delinsGGTT	XP_016864820.1:n.2038+108_2038+111delinsGGTT
NM_133433.4:c.3664+108_3664+111delinsGGTT MANE Select	NP_597677.2:n.3664+108_3664+111delinsGGTT
NM_015384.5:c.3664+108_3664+111delinsGGTT	NP_056199.2:n.3664+108_3664+111delinsGGTT