Canonical Allele Identifier: CA2673575061

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37001156-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37001156_37001157insA , CM000667.2:g.37001156_37001157insA	GRCh38
NC_000005.9:g.37001258_37001259insA , CM000667.1:g.37001258_37001259insA	GRCh37
NC_000005.8:g.37037015_37037016insA	NCBI36
NG_006987.1:g.129274_129275insA
NG_006987.2:g.129274_129275insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3664+78_3664+79insA MANE Select	ENSP00000282516.8:n.3664+78_3664+79insA
ENST00000652901.1:c.3664+78_3664+79insA	ENSP00000499536.1:n.3664+78_3664+79insA
ENST00000282516.12:c.3664+78_3664+79insA	ENSP00000282516.8:n.3664+78_3664+79insA
ENST00000448238.2:c.3664+78_3664+79insA	ENSP00000406266.2:n.3664+78_3664+79insA
ENST00000621733.1:c.1-63422_1-63421insA	ENSP00000480694.1:n.1-63422_1-63421insA
NM_015384.4:c.3664+78_3664+79insA	NP_056199.2:n.3664+78_3664+79insA
NM_133433.3:c.3664+78_3664+79insA	NP_597677.2:n.3664+78_3664+79insA
XM_005248280.2:c.3664+78_3664+79insA	XP_005248337.1:n.3664+78_3664+79insA
XM_005248282.3:c.2920+78_2920+79insA	XP_005248339.2:n.2920+78_2920+79insA
XM_006714467.2:c.3664+78_3664+79insA	XP_006714530.1:n.3664+78_3664+79insA
XM_006714468.1:c.3466+78_3466+79insA	XP_006714531.1:n.3466+78_3466+79insA
XM_011514014.1:c.3283+78_3283+79insA	XP_011512316.1:n.3283+78_3283+79insA
XM_011514015.1:c.3664+78_3664+79insA	XP_011512317.1:n.3664+78_3664+79insA
XM_005248280.3:c.3664+78_3664+79insA	XP_005248337.1:n.3664+78_3664+79insA
XM_005248282.5:c.3004+78_3004+79insA	XP_005248339.3:n.3004+78_3004+79insA
XM_006714468.2:c.3466+78_3466+79insA	XP_006714531.1:n.3466+78_3466+79insA
XM_017009329.1:c.3664+78_3664+79insA	XP_016864818.1:n.3664+78_3664+79insA
XM_017009330.2:c.2047+78_2047+79insA	XP_016864819.1:n.2047+78_2047+79insA
XM_017009331.1:c.2038+78_2038+79insA	XP_016864820.1:n.2038+78_2038+79insA
NM_133433.4:c.3664+78_3664+79insA MANE Select	NP_597677.2:n.3664+78_3664+79insA
NM_015384.5:c.3664+78_3664+79insA	NP_056199.2:n.3664+78_3664+79insA