Canonical Allele Identifier: CA780985289

Gene: CCBE1

Linked Data

• dbSNP Id: rs1323276923
• gnomAD v3: 18-59466772-A-AT
• gnomAD v4: 18-59466772-A-AT
• MyVariant Identifiers: chr18:g.57134004_57134005insT (hg19) ; chr18:g.59466772_59466773insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59466773dup , CM000680.2:g.59466773dup	GRCh38
NC_000018.9:g.57134005dup , CM000680.1:g.57134005dup	GRCh37
NC_000018.8:g.55284985dup	NCBI36
NG_016990.1:g.235640dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000589419.2:n.522dup
ENST00000650467.2:c.519dup	ENSP00000496897.2:p.Cys174MetfsTer10
ENST00000695903.1:c.519dup	ENSP00000512255.1:p.Cys174MetfsTer10
ENST00000695904.1:c.519dup	ENSP00000512259.1:p.Cys174MetfsTer10
ENST00000439986.9:c.519dup MANE Select	ENSP00000404464.2:p.Cys174MetfsTer10
ENST00000649564.1:c.519dup	ENSP00000497183.1:p.Cys174MetfsTer10
ENST00000650467.1:c.397dup
ENST00000398179.3:c.309dup	ENSP00000381241.3:p.Cys104MetfsTer10
ENST00000439986.8:c.519dup	ENSP00000404464.2:p.Cys174MetfsTer10
ENST00000589419.1:c.-55dup	ENSP00000467710.1:n.-55dup
NM_133459.3:c.519dup	NP_597716.1:p.Cys174MetfsTer10
XM_005266648.2:c.519dup	XP_005266705.1:p.Cys174MetfsTer10
NM_133459.4:c.519dup MANE Select	NP_597716.1:p.Cys174MetfsTer10
XM_017025556.1:c.519dup	XP_016881045.1:p.Cys174MetfsTer10
XM_017025557.1:c.519dup	XP_016881046.1:p.Cys174MetfsTer10
XM_017025558.1:c.519dup	XP_016881047.1:p.Cys174MetfsTer10
XM_024451091.1:c.519dup	XP_024306859.1:p.Cys174MetfsTer10
XR_001753142.1:n.1358dup