Canonical Allele Identifier: CA3237331

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs747291753
• ExAC: 5:37064608 T / TC
• gnomAD v2: 5-37064608-T-TC
• gnomAD v3: 5-37064506-T-TC
• gnomAD v4: 5-37064506-T-TC
• MyVariant Identifiers: chr5:g.37064609_37064610insC (hg19) ; chr5:g.37064608_37064609insC (hg19) ; chr5:g.37064507_37064508insC (hg38) ; chr5:g.37064506_37064507insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064512dup , CM000667.2:g.37064512dup	GRCh38
NC_000005.9:g.37064614dup , CM000667.1:g.37064614dup	GRCh37
NC_000005.8:g.37100371dup	NCBI36
NG_006987.1:g.192630dup
NG_006987.2:g.192630dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8050-15dup (NIPBL) MANE Select	ENSP00000282516.8:n.8050-15dup
ENST00000652901.1:c.7944-15dup (NIPBL)	ENSP00000499536.1:n.7944-15dup
ENST00000282516.12:c.8050-15dup (NIPBL)	ENSP00000282516.8:n.8050-15dup
ENST00000514335.1:n.1973-15dup (NIPBL)
ENST00000621733.1:c.1-66dup (NIPBL)	ENSP00000480694.1:n.1-66dup
NM_015384.4:c.*489dup (NIPBL)	NP_056199.2:n.*489dup
NM_133433.3:c.8050-15dup (NIPBL)	NP_597677.2:n.8050-15dup
XM_005248280.2:c.8091-15dup (NIPBL)	XP_005248337.1:n.8091-15dup
XM_005248282.3:c.7306-15dup (NIPBL)	XP_005248339.2:n.7306-15dup
XM_006714467.2:c.7903-15dup (NIPBL)	XP_006714530.1:n.7903-15dup
XM_006714468.1:c.7852-15dup (NIPBL)	XP_006714531.1:n.7852-15dup
XM_011514014.1:c.7669-15dup (NIPBL)	XP_011512316.1:n.7669-15dup
XM_005248280.3:c.8091-15dup (NIPBL)	XP_005248337.1:n.8091-15dup
XM_005248282.5:c.7390-15dup (NIPBL)	XP_005248339.3:n.7390-15dup
XM_006714468.2:c.7852-15dup (NIPBL)	XP_006714531.1:n.7852-15dup
XM_017009329.1:c.7944-15dup (NIPBL)	XP_016864818.1:n.7944-15dup
XM_017009330.2:c.6433-15dup (NIPBL)	XP_016864819.1:n.6433-15dup
XM_017009331.1:c.6424-15dup (NIPBL)	XP_016864820.1:n.6424-15dup
XR_925644.2:n.12175dup (CPLANE1)
NM_133433.4:c.8050-15dup (NIPBL) MANE Select	NP_597677.2:n.8050-15dup
NM_015384.5:c.*489dup (NIPBL)	NP_056199.2:n.*489dup