Canonical Allele Identifier: CA2578289907

Gene: NIPBL CPLANE1

Linked Data

• gnomAD v4: 5-37064291-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064295dup , CM000667.2:g.37064295dup	GRCh38
NC_000005.9:g.37064397dup , CM000667.1:g.37064397dup	GRCh37
NC_000005.8:g.37100154dup	NCBI36
NG_006987.1:g.192413dup
NG_006987.2:g.192413dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8050-232dup (NIPBL) MANE Select	ENSP00000282516.8:n.8050-232dup
ENST00000652901.1:c.7944-232dup (NIPBL)	ENSP00000499536.1:n.7944-232dup
ENST00000282516.12:c.8050-232dup (NIPBL)	ENSP00000282516.8:n.8050-232dup
ENST00000514335.1:n.1973-232dup (NIPBL)
ENST00000621733.1:c.1-283dup (NIPBL)	ENSP00000480694.1:n.1-283dup
NM_015384.4:c.*272dup (NIPBL)	NP_056199.2:n.*272dup
NM_133433.3:c.8050-232dup (NIPBL)	NP_597677.2:n.8050-232dup
XM_005248280.2:c.8091-232dup (NIPBL)	XP_005248337.1:n.8091-232dup
XM_005248282.3:c.7306-232dup (NIPBL)	XP_005248339.2:n.7306-232dup
XM_006714467.2:c.7903-232dup (NIPBL)	XP_006714530.1:n.7903-232dup
XM_006714468.1:c.7852-232dup (NIPBL)	XP_006714531.1:n.7852-232dup
XM_011514014.1:c.7669-232dup (NIPBL)	XP_011512316.1:n.7669-232dup
XM_005248280.3:c.8091-232dup (NIPBL)	XP_005248337.1:n.8091-232dup
XM_005248282.5:c.7390-232dup (NIPBL)	XP_005248339.3:n.7390-232dup
XM_006714468.2:c.7852-232dup (NIPBL)	XP_006714531.1:n.7852-232dup
XM_017009329.1:c.7944-232dup (NIPBL)	XP_016864818.1:n.7944-232dup
XM_017009330.2:c.6433-232dup (NIPBL)	XP_016864819.1:n.6433-232dup
XM_017009331.1:c.6424-232dup (NIPBL)	XP_016864820.1:n.6424-232dup
XR_925644.2:n.12390dup (CPLANE1)
NM_133433.4:c.8050-232dup (NIPBL) MANE Select	NP_597677.2:n.8050-232dup
NM_015384.5:c.*272dup (NIPBL)	NP_056199.2:n.*272dup