Canonical Allele Identifier: CA1539571605

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051985_37051987delinsATG , CM000667.2:g.37051985_37051987delinsATG	GRCh38
NC_000005.9:g.37052087_37052089delinsATG , CM000667.1:g.37052087_37052089delinsATG	GRCh37
NC_000005.8:g.37087844_37087846delinsATG	NCBI36
NG_006987.1:g.180103_180105delinsATG
NG_006987.2:g.180103_180105delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7062+99_7062+101delinsATG MANE Select	ENSP00000282516.8:n.7062+99_7062+101delinsATG
ENST00000652901.1:c.7062+99_7062+101delinsATG	ENSP00000499536.1:n.7062+99_7062+101delinsATG
ENST00000282516.12:c.7062+99_7062+101delinsATG	ENSP00000282516.8:n.7062+99_7062+101delinsATG
ENST00000448238.2:c.7062+99_7062+101delinsATG	ENSP00000406266.2:n.7062+99_7062+101delinsATG
ENST00000514335.1:n.944+99_944+101delinsATG
ENST00000621733.1:c.1-12593_1-12591delinsATG	ENSP00000480694.1:n.1-12593_1-12591delinsATG
NM_015384.4:c.7062+99_7062+101delinsATG	NP_056199.2:n.7062+99_7062+101delinsATG
NM_133433.3:c.7062+99_7062+101delinsATG	NP_597677.2:n.7062+99_7062+101delinsATG
XM_005248280.2:c.7062+99_7062+101delinsATG	XP_005248337.1:n.7062+99_7062+101delinsATG
XM_005248282.3:c.6318+99_6318+101delinsATG	XP_005248339.2:n.6318+99_6318+101delinsATG
XM_006714467.2:c.7062+99_7062+101delinsATG	XP_006714530.1:n.7062+99_7062+101delinsATG
XM_006714468.1:c.6864+99_6864+101delinsATG	XP_006714531.1:n.6864+99_6864+101delinsATG
XM_011514014.1:c.6681+99_6681+101delinsATG	XP_011512316.1:n.6681+99_6681+101delinsATG
XM_011514015.1:c.7062+99_7062+101delinsATG	XP_011512317.1:n.7062+99_7062+101delinsATG
XM_005248280.3:c.7062+99_7062+101delinsATG	XP_005248337.1:n.7062+99_7062+101delinsATG
XM_005248282.5:c.6402+99_6402+101delinsATG	XP_005248339.3:n.6402+99_6402+101delinsATG
XM_006714468.2:c.6864+99_6864+101delinsATG	XP_006714531.1:n.6864+99_6864+101delinsATG
XM_017009329.1:c.7062+99_7062+101delinsATG	XP_016864818.1:n.7062+99_7062+101delinsATG
XM_017009330.2:c.5445+99_5445+101delinsATG	XP_016864819.1:n.5445+99_5445+101delinsATG
XM_017009331.1:c.5436+99_5436+101delinsATG	XP_016864820.1:n.5436+99_5436+101delinsATG
NM_133433.4:c.7062+99_7062+101delinsATG MANE Select	NP_597677.2:n.7062+99_7062+101delinsATG
NM_015384.5:c.7062+99_7062+101delinsATG	NP_056199.2:n.7062+99_7062+101delinsATG