Canonical Allele Identifier: CA2546923151

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36877030_36877031insAATGA , CM000667.2:g.36877030_36877031insAATGA	GRCh38
NC_000005.9:g.36877132_36877133insAATGA , CM000667.1:g.36877132_36877133insAATGA	GRCh37
NC_000005.8:g.36912889_36912890insAATGA	NCBI36
NG_006987.1:g.5148_5149insAATGA
NG_006987.2:g.5148_5149insAATGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.-228_-227insAATGA MANE Select	ENSP00000282516.8:n.-228_-227insAATGA
ENST00000652901.1:c.-228_-227insAATGA	ENSP00000499536.1:n.-228_-227insAATGA
ENST00000282516.12:c.-228_-227insAATGA	ENSP00000282516.8:n.-228_-227insAATGA
ENST00000448238.2:c.-228_-227insAATGA	ENSP00000406266.2:n.-228_-227insAATGA
ENST00000621733.1:c.-1+8_-1+9insAATGA	ENSP00000480694.1:n.-1+8_-1+9insAATGA
NM_015384.4:c.-228_-227insAATGA	NP_056199.2:n.-228_-227insAATGA
NM_133433.3:c.-228_-227insAATGA	NP_597677.2:n.-228_-227insAATGA
XM_005248280.2:c.-228_-227insAATGA	XP_005248337.1:n.-228_-227insAATGA
XM_006714467.2:c.-228_-227insAATGA	XP_006714530.1:n.-228_-227insAATGA
XM_006714468.1:c.-228_-227insAATGA	XP_006714531.1:n.-228_-227insAATGA
XM_011514014.1:c.-228_-227insAATGA	XP_011512316.1:n.-228_-227insAATGA
XM_011514015.1:c.-228_-227insAATGA	XP_011512317.1:n.-228_-227insAATGA
XM_005248280.3:c.-228_-227insAATGA	XP_005248337.1:n.-228_-227insAATGA
XM_006714468.2:c.-228_-227insAATGA	XP_006714531.1:n.-228_-227insAATGA
XM_017009329.1:c.-228_-227insAATGA	XP_016864818.1:n.-228_-227insAATGA
XM_017009331.1:c.-228_-227insAATGA	XP_016864820.1:n.-228_-227insAATGA
NM_133433.4:c.-228_-227insAATGA MANE Select	NP_597677.2:n.-228_-227insAATGA
NM_015384.5:c.-228_-227insAATGA	NP_056199.2:n.-228_-227insAATGA