Canonical Allele Identifier: CA3047144798

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985607_36985608delinsCA , CM000667.2:g.36985607_36985608delinsCA	GRCh38
NC_000005.9:g.36985709_36985710delinsCA , CM000667.1:g.36985709_36985710delinsCA	GRCh37
NC_000005.8:g.37021466_37021467delinsCA	NCBI36
NG_006987.1:g.113725_113726delinsCA
NG_006987.2:g.113725_113726delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2427_2428delinsCA MANE Select	ENSP00000282516.8:p.Val810Ile
ENST00000652901.1:c.2427_2428delinsCA	ENSP00000499536.1:p.Val810Ile
ENST00000282516.12:c.2427_2428delinsCA	ENSP00000282516.8:p.Val810Ile
ENST00000448238.2:c.2427_2428delinsCA	ENSP00000406266.2:p.Val810Ile
ENST00000504430.5:n.2047_2048delinsCA
ENST00000621733.1:c.1-78971_1-78970delinsCA	ENSP00000480694.1:n.1-78971_1-78970delinsCA
NM_015384.4:c.2427_2428delinsCA	NP_056199.2:p.Val810Ile
NM_133433.3:c.2427_2428delinsCA	NP_597677.2:p.Val810Ile
XM_005248280.2:c.2427_2428delinsCA	XP_005248337.1:p.Val810Ile
XM_005248282.3:c.1683_1684delinsCA	XP_005248339.2:p.Val562Ile
XM_006714467.2:c.2427_2428delinsCA	XP_006714530.1:p.Val810Ile
XM_006714468.1:c.2427_2428delinsCA	XP_006714531.1:p.Val810Ile
XM_011514014.1:c.2427_2428delinsCA	XP_011512316.1:p.Val810Ile
XM_011514015.1:c.2427_2428delinsCA	XP_011512317.1:p.Val810Ile
XM_005248280.3:c.2427_2428delinsCA	XP_005248337.1:p.Val810Ile
XM_005248282.5:c.1767_1768delinsCA	XP_005248339.3:p.Val590Ile
XM_006714468.2:c.2427_2428delinsCA	XP_006714531.1:p.Val810Ile
XM_017009329.1:c.2427_2428delinsCA	XP_016864818.1:p.Val810Ile
XM_017009330.2:c.810_811delinsCA	XP_016864819.1:p.Val271Ile
XM_017009331.1:c.1495+9205_1495+9206delinsCA	XP_016864820.1:n.1495+9205_1495+9206delinsCA
NM_133433.4:c.2427_2428delinsCA MANE Select	NP_597677.2:p.Val810Ile
NM_015384.5:c.2427_2428delinsCA	NP_056199.2:p.Val810Ile