Canonical Allele Identifier: CA1539537775

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36877007_36877010delinsGGAA , CM000667.2:g.36877007_36877010delinsGGAA	GRCh38
NC_000005.9:g.36877109_36877112delinsGGAA , CM000667.1:g.36877109_36877112delinsGGAA	GRCh37
NC_000005.8:g.36912866_36912869delinsGGAA	NCBI36
NG_006987.1:g.5125_5128delinsGGAA
NG_006987.2:g.5125_5128delinsGGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.-251_-248delinsGGAA MANE Select	ENSP00000282516.8:n.-251_-248delinsGGAA
ENST00000652901.1:c.-251_-248delinsGGAA	ENSP00000499536.1:n.-251_-248delinsGGAA
ENST00000282516.12:c.-251_-248delinsGGAA	ENSP00000282516.8:n.-251_-248delinsGGAA
ENST00000448238.2:c.-251_-248delinsGGAA	ENSP00000406266.2:n.-251_-248delinsGGAA
ENST00000621733.1:c.-16_-13delinsGGAA	ENSP00000480694.1:n.-16_-13delinsGGAA
NM_015384.4:c.-251_-248delinsGGAA	NP_056199.2:n.-251_-248delinsGGAA
NM_133433.3:c.-251_-248delinsGGAA	NP_597677.2:n.-251_-248delinsGGAA
XM_005248280.2:c.-251_-248delinsGGAA	XP_005248337.1:n.-251_-248delinsGGAA
XM_006714467.2:c.-251_-248delinsGGAA	XP_006714530.1:n.-251_-248delinsGGAA
XM_006714468.1:c.-251_-248delinsGGAA	XP_006714531.1:n.-251_-248delinsGGAA
XM_011514014.1:c.-251_-248delinsGGAA	XP_011512316.1:n.-251_-248delinsGGAA
XM_011514015.1:c.-251_-248delinsGGAA	XP_011512317.1:n.-251_-248delinsGGAA
XM_005248280.3:c.-251_-248delinsGGAA	XP_005248337.1:n.-251_-248delinsGGAA
XM_006714468.2:c.-251_-248delinsGGAA	XP_006714531.1:n.-251_-248delinsGGAA
XM_017009329.1:c.-251_-248delinsGGAA	XP_016864818.1:n.-251_-248delinsGGAA
XM_017009331.1:c.-251_-248delinsGGAA	XP_016864820.1:n.-251_-248delinsGGAA
NM_133433.4:c.-251_-248delinsGGAA MANE Select	NP_597677.2:n.-251_-248delinsGGAA
NM_015384.5:c.-251_-248delinsGGAA	NP_056199.2:n.-251_-248delinsGGAA