Canonical Allele Identifier: CA1539587376

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37022025_37022026delinsCA , CM000667.2:g.37022025_37022026delinsCA	GRCh38
NC_000005.9:g.37022127_37022128delinsCA , CM000667.1:g.37022127_37022128delinsCA	GRCh37
NC_000005.8:g.37057884_37057885delinsCA	NCBI36
NG_006987.1:g.150143_150144delinsCA
NG_006987.2:g.150143_150144delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5329-26_5329-25delinsCA MANE Select	ENSP00000282516.8:n.5329-26_5329-25delinsCA
ENST00000652901.1:c.5329-26_5329-25delinsCA	ENSP00000499536.1:n.5329-26_5329-25delinsCA
ENST00000282516.12:c.5329-26_5329-25delinsCA	ENSP00000282516.8:n.5329-26_5329-25delinsCA
ENST00000448238.2:c.5329-26_5329-25delinsCA	ENSP00000406266.2:n.5329-26_5329-25delinsCA
ENST00000621733.1:c.1-42553_1-42552delinsCA	ENSP00000480694.1:n.1-42553_1-42552delinsCA
NM_015384.4:c.5329-26_5329-25delinsCA	NP_056199.2:n.5329-26_5329-25delinsCA
NM_133433.3:c.5329-26_5329-25delinsCA	NP_597677.2:n.5329-26_5329-25delinsCA
XM_005248280.2:c.5329-26_5329-25delinsCA	XP_005248337.1:n.5329-26_5329-25delinsCA
XM_005248282.3:c.4585-26_4585-25delinsCA	XP_005248339.2:n.4585-26_4585-25delinsCA
XM_006714467.2:c.5329-26_5329-25delinsCA	XP_006714530.1:n.5329-26_5329-25delinsCA
XM_006714468.1:c.5131-26_5131-25delinsCA	XP_006714531.1:n.5131-26_5131-25delinsCA
XM_011514014.1:c.4948-26_4948-25delinsCA	XP_011512316.1:n.4948-26_4948-25delinsCA
XM_011514015.1:c.5329-26_5329-25delinsCA	XP_011512317.1:n.5329-26_5329-25delinsCA
XM_005248280.3:c.5329-26_5329-25delinsCA	XP_005248337.1:n.5329-26_5329-25delinsCA
XM_005248282.5:c.4669-26_4669-25delinsCA	XP_005248339.3:n.4669-26_4669-25delinsCA
XM_006714468.2:c.5131-26_5131-25delinsCA	XP_006714531.1:n.5131-26_5131-25delinsCA
XM_017009329.1:c.5329-26_5329-25delinsCA	XP_016864818.1:n.5329-26_5329-25delinsCA
XM_017009330.2:c.3712-26_3712-25delinsCA	XP_016864819.1:n.3712-26_3712-25delinsCA
XM_017009331.1:c.3703-26_3703-25delinsCA	XP_016864820.1:n.3703-26_3703-25delinsCA
NM_133433.4:c.5329-26_5329-25delinsCA MANE Select	NP_597677.2:n.5329-26_5329-25delinsCA
NM_015384.5:c.5329-26_5329-25delinsCA	NP_056199.2:n.5329-26_5329-25delinsCA