Canonical Allele Identifier: CA1539568747

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049533_37049534delinsTA , CM000667.2:g.37049533_37049534delinsTA	GRCh38
NC_000005.9:g.37049635_37049636delinsTA , CM000667.1:g.37049635_37049636delinsTA	GRCh37
NC_000005.8:g.37085392_37085393delinsTA	NCBI36
NG_006987.1:g.177651_177652delinsTA
NG_006987.2:g.177651_177652delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6954+232_6954+233delinsTA MANE Select	ENSP00000282516.8:n.6954+232_6954+233delinsTA
ENST00000652901.1:c.6954+232_6954+233delinsTA	ENSP00000499536.1:n.6954+232_6954+233delinsTA
ENST00000282516.12:c.6954+232_6954+233delinsTA	ENSP00000282516.8:n.6954+232_6954+233delinsTA
ENST00000448238.2:c.6954+232_6954+233delinsTA	ENSP00000406266.2:n.6954+232_6954+233delinsTA
ENST00000621733.1:c.1-15045_1-15044delinsTA	ENSP00000480694.1:n.1-15045_1-15044delinsTA
NM_015384.4:c.6954+232_6954+233delinsTA	NP_056199.2:n.6954+232_6954+233delinsTA
NM_133433.3:c.6954+232_6954+233delinsTA	NP_597677.2:n.6954+232_6954+233delinsTA
XM_005248280.2:c.6954+232_6954+233delinsTA	XP_005248337.1:n.6954+232_6954+233delinsTA
XM_005248282.3:c.6210+232_6210+233delinsTA	XP_005248339.2:n.6210+232_6210+233delinsTA
XM_006714467.2:c.6954+232_6954+233delinsTA	XP_006714530.1:n.6954+232_6954+233delinsTA
XM_006714468.1:c.6756+232_6756+233delinsTA	XP_006714531.1:n.6756+232_6756+233delinsTA
XM_011514014.1:c.6573+232_6573+233delinsTA	XP_011512316.1:n.6573+232_6573+233delinsTA
XM_011514015.1:c.6954+232_6954+233delinsTA	XP_011512317.1:n.6954+232_6954+233delinsTA
XM_005248280.3:c.6954+232_6954+233delinsTA	XP_005248337.1:n.6954+232_6954+233delinsTA
XM_005248282.5:c.6294+232_6294+233delinsTA	XP_005248339.3:n.6294+232_6294+233delinsTA
XM_006714468.2:c.6756+232_6756+233delinsTA	XP_006714531.1:n.6756+232_6756+233delinsTA
XM_017009329.1:c.6954+232_6954+233delinsTA	XP_016864818.1:n.6954+232_6954+233delinsTA
XM_017009330.2:c.5337+232_5337+233delinsTA	XP_016864819.1:n.5337+232_5337+233delinsTA
XM_017009331.1:c.5328+232_5328+233delinsTA	XP_016864820.1:n.5328+232_5328+233delinsTA
NM_133433.4:c.6954+232_6954+233delinsTA MANE Select	NP_597677.2:n.6954+232_6954+233delinsTA
NM_015384.5:c.6954+232_6954+233delinsTA	NP_056199.2:n.6954+232_6954+233delinsTA