Canonical Allele Identifier: CA2673574342

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36995882-G-GCGACCACCGA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995882_36995883insCGACCACCGA , CM000667.2:g.36995882_36995883insCGACCACCGA	GRCh38
NC_000005.9:g.36995984_36995985insCGACCACCGA , CM000667.1:g.36995984_36995985insCGACCACCGA	GRCh37
NC_000005.8:g.37031741_37031742insCGACCACCGA	NCBI36
NG_006987.1:g.124000_124001insCGACCACCGA
NG_006987.2:g.124000_124001insCGACCACCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+78_3304+79insCGACCACCGA MANE Select	ENSP00000282516.8:n.3304+78_3304+79insCGACCACCGA
ENST00000652901.1:c.3304+78_3304+79insCGACCACCGA	ENSP00000499536.1:n.3304+78_3304+79insCGACCACCGA
ENST00000282516.12:c.3304+78_3304+79insCGACCACCGA	ENSP00000282516.8:n.3304+78_3304+79insCGACCACCGA
ENST00000448238.2:c.3304+78_3304+79insCGACCACCGA	ENSP00000406266.2:n.3304+78_3304+79insCGACCACCGA
ENST00000503274.1:n.655+78_655+79insCGACCACCGA
ENST00000504430.5:n.2924+78_2924+79insCGACCACCGA
ENST00000509429.1:n.55+78_55+79insCGACCACCGA
ENST00000621733.1:c.1-68696_1-68695insCGACCACCGA	ENSP00000480694.1:n.1-68696_1-68695insCGACCACCGA
NM_015384.4:c.3304+78_3304+79insCGACCACCGA	NP_056199.2:n.3304+78_3304+79insCGACCACCGA
NM_133433.3:c.3304+78_3304+79insCGACCACCGA	NP_597677.2:n.3304+78_3304+79insCGACCACCGA
XM_005248280.2:c.3304+78_3304+79insCGACCACCGA	XP_005248337.1:n.3304+78_3304+79insCGACCACCGA
XM_005248282.3:c.2560+78_2560+79insCGACCACCGA	XP_005248339.2:n.2560+78_2560+79insCGACCACCGA
XM_006714467.2:c.3304+78_3304+79insCGACCACCGA	XP_006714530.1:n.3304+78_3304+79insCGACCACCGA
XM_006714468.1:c.3304+78_3304+79insCGACCACCGA	XP_006714531.1:n.3304+78_3304+79insCGACCACCGA
XM_011514014.1:c.3122-4935_3122-4934insCGACCACCGA	XP_011512316.1:n.3122-4935_3122-4934insCGACCACCGA
XM_011514015.1:c.3304+78_3304+79insCGACCACCGA	XP_011512317.1:n.3304+78_3304+79insCGACCACCGA
XM_005248280.3:c.3304+78_3304+79insCGACCACCGA	XP_005248337.1:n.3304+78_3304+79insCGACCACCGA
XM_005248282.5:c.2644+78_2644+79insCGACCACCGA	XP_005248339.3:n.2644+78_2644+79insCGACCACCGA
XM_006714468.2:c.3304+78_3304+79insCGACCACCGA	XP_006714531.1:n.3304+78_3304+79insCGACCACCGA
XM_017009329.1:c.3304+78_3304+79insCGACCACCGA	XP_016864818.1:n.3304+78_3304+79insCGACCACCGA
XM_017009330.2:c.1687+78_1687+79insCGACCACCGA	XP_016864819.1:n.1687+78_1687+79insCGACCACCGA
XM_017009331.1:c.1678+78_1678+79insCGACCACCGA	XP_016864820.1:n.1678+78_1678+79insCGACCACCGA
NM_133433.4:c.3304+78_3304+79insCGACCACCGA MANE Select	NP_597677.2:n.3304+78_3304+79insCGACCACCGA
NM_015384.5:c.3304+78_3304+79insCGACCACCGA	NP_056199.2:n.3304+78_3304+79insCGACCACCGA