Canonical Allele Identifier: CA2673573087

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36876849-C-CCCCCGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36876849_36876850insCCCCGGG , CM000667.2:g.36876849_36876850insCCCCGGG	GRCh38
NC_000005.9:g.36876951_36876952insCCCCGGG , CM000667.1:g.36876951_36876952insCCCCGGG	GRCh37
NC_000005.8:g.36912708_36912709insCCCCGGG	NCBI36
NG_006987.1:g.4967_4968insCCCCGGG
NG_006987.2:g.4967_4968insCCCCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.-409_-408insCCCCGGG MANE Select	ENSP00000282516.8:n.-409_-408insCCCCGGG
ENST00000652901.1:c.-409_-408insCCCCGGG	ENSP00000499536.1:n.-409_-408insCCCCGGG
ENST00000282516.12:c.-409_-408insCCCCGGG	ENSP00000282516.8:n.-409_-408insCCCCGGG
ENST00000448238.2:c.-409_-408insCCCCGGG	ENSP00000406266.2:n.-409_-408insCCCCGGG
NM_015384.4:c.-409_-408insCCCCGGG	NP_056199.2:n.-409_-408insCCCCGGG
NM_133433.3:c.-409_-408insCCCCGGG	NP_597677.2:n.-409_-408insCCCCGGG
XM_005248280.2:c.-409_-408insCCCCGGG	XP_005248337.1:n.-409_-408insCCCCGGG
XM_006714467.2:c.-409_-408insCCCCGGG	XP_006714530.1:n.-409_-408insCCCCGGG
XM_006714468.1:c.-409_-408insCCCCGGG	XP_006714531.1:n.-409_-408insCCCCGGG
XM_011514014.1:c.-409_-408insCCCCGGG	XP_011512316.1:n.-409_-408insCCCCGGG
XM_011514015.1:c.-409_-408insCCCCGGG	XP_011512317.1:n.-409_-408insCCCCGGG
XM_005248280.3:c.-409_-408insCCCCGGG	XP_005248337.1:n.-409_-408insCCCCGGG
XM_006714468.2:c.-409_-408insCCCCGGG	XP_006714531.1:n.-409_-408insCCCCGGG
XM_017009329.1:c.-409_-408insCCCCGGG	XP_016864818.1:n.-409_-408insCCCCGGG
XM_017009331.1:c.-409_-408insCCCCGGG	XP_016864820.1:n.-409_-408insCCCCGGG
NM_133433.4:c.-409_-408insCCCCGGG MANE Select	NP_597677.2:n.-409_-408insCCCCGGG
NM_015384.5:c.-409_-408insCCCCGGG	NP_056199.2:n.-409_-408insCCCCGGG