Canonical Allele Identifier: CA1539593017

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995815_36995816delinsCA , CM000667.2:g.36995815_36995816delinsCA	GRCh38
NC_000005.9:g.36995917_36995918delinsCA , CM000667.1:g.36995917_36995918delinsCA	GRCh37
NC_000005.8:g.37031674_37031675delinsCA	NCBI36
NG_006987.1:g.123933_123934delinsCA
NG_006987.2:g.123933_123934delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+11_3304+12delinsCA MANE Select	ENSP00000282516.8:n.3304+11_3304+12delinsCA
ENST00000652901.1:c.3304+11_3304+12delinsCA	ENSP00000499536.1:n.3304+11_3304+12delinsCA
ENST00000282516.12:c.3304+11_3304+12delinsCA	ENSP00000282516.8:n.3304+11_3304+12delinsCA
ENST00000448238.2:c.3304+11_3304+12delinsCA	ENSP00000406266.2:n.3304+11_3304+12delinsCA
ENST00000503274.1:n.655+11_655+12delinsCA
ENST00000504430.5:n.2924+11_2924+12delinsCA
ENST00000509429.1:n.55+11_55+12delinsCA
ENST00000621733.1:c.1-68763_1-68762delinsCA	ENSP00000480694.1:n.1-68763_1-68762delinsCA
NM_015384.4:c.3304+11_3304+12delinsCA	NP_056199.2:n.3304+11_3304+12delinsCA
NM_133433.3:c.3304+11_3304+12delinsCA	NP_597677.2:n.3304+11_3304+12delinsCA
XM_005248280.2:c.3304+11_3304+12delinsCA	XP_005248337.1:n.3304+11_3304+12delinsCA
XM_005248282.3:c.2560+11_2560+12delinsCA	XP_005248339.2:n.2560+11_2560+12delinsCA
XM_006714467.2:c.3304+11_3304+12delinsCA	XP_006714530.1:n.3304+11_3304+12delinsCA
XM_006714468.1:c.3304+11_3304+12delinsCA	XP_006714531.1:n.3304+11_3304+12delinsCA
XM_011514014.1:c.3122-5002_3122-5001delinsCA	XP_011512316.1:n.3122-5002_3122-5001delinsCA
XM_011514015.1:c.3304+11_3304+12delinsCA	XP_011512317.1:n.3304+11_3304+12delinsCA
XM_005248280.3:c.3304+11_3304+12delinsCA	XP_005248337.1:n.3304+11_3304+12delinsCA
XM_005248282.5:c.2644+11_2644+12delinsCA	XP_005248339.3:n.2644+11_2644+12delinsCA
XM_006714468.2:c.3304+11_3304+12delinsCA	XP_006714531.1:n.3304+11_3304+12delinsCA
XM_017009329.1:c.3304+11_3304+12delinsCA	XP_016864818.1:n.3304+11_3304+12delinsCA
XM_017009330.2:c.1687+11_1687+12delinsCA	XP_016864819.1:n.1687+11_1687+12delinsCA
XM_017009331.1:c.1678+11_1678+12delinsCA	XP_016864820.1:n.1678+11_1678+12delinsCA
NM_133433.4:c.3304+11_3304+12delinsCA MANE Select	NP_597677.2:n.3304+11_3304+12delinsCA
NM_015384.5:c.3304+11_3304+12delinsCA	NP_056199.2:n.3304+11_3304+12delinsCA