Canonical Allele Identifier: CA199752

Gene: CABP4

Linked Data

• ClinVar Variation Id: 190960
• ClinVar RCV Id: RCV000171133 ; RCV001557083
• dbSNP Id: rs786205852
• gnomAD v4: 11-67455504-T-TA
• MyVariant Identifiers: chr11:g.67222975_67222976insA (hg19) ; chr11:g.67455504_67455505insA (hg38)
• PubMed: PMID:20157620 ; PMID:23099293

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67455504_67455505insA , CM000673.2:g.67455504_67455505insA	GRCh38
NC_000011.9:g.67222975_67222976insA , CM000673.1:g.67222975_67222976insA	GRCh37
NC_000011.8:g.66979551_66979552insA	NCBI36
NG_021211.1:g.5158_5159insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325656.7:c.81_82insA MANE Select	ENSP00000324960.5:p.Pro28ThrfsTer4
ENST00000325656.6:c.81_82insA	ENSP00000324960.5:p.Pro28ThrfsTer4
ENST00000438189.6:c.-112-205_-112-204insA	ENSP00000401555.2:n.-112-205_-112-204insA
ENST00000538060.1:n.366_367insA
ENST00000542025.2:n.478_479insA
ENST00000545777.1:c.81_82insA	ENSP00000439145.1:p.Pro28ThrfsTer4
NM_001300895.1:c.-303_-302insA	NP_001287824.1:n.-303_-302insA
NM_001300896.1:c.-112-205_-112-204insA	NP_001287825.1:n.-112-205_-112-204insA
NM_145200.3:c.81_82insA	NP_660201.1:p.Pro28ThrfsTer4
XM_005274114.2:c.141_142insA	XP_005274171.2:p.Pro48ThrfsTer4
XM_011545181.1:c.141_142insA	XP_011543483.1:p.Pro48ThrfsTer4
XM_011545182.1:c.141_142insA	XP_011543484.1:p.Pro48ThrfsTer4
XM_011545183.1:c.-112-205_-112-204insA	XP_011543485.1:n.-112-205_-112-204insA
XM_005274114.3:c.141_142insA	XP_005274171.2:p.Pro48ThrfsTer4
XM_011545181.2:c.141_142insA	XP_011543483.1:p.Pro48ThrfsTer4
XM_011545182.2:c.141_142insA	XP_011543484.1:p.Pro48ThrfsTer4
XM_011545183.2:c.-112-205_-112-204insA	XP_011543485.1:n.-112-205_-112-204insA
XM_017018025.1:c.-317_-316insA	XP_016873514.1:n.-317_-316insA
XM_024448615.1:c.81_82insA	XP_024304383.1:p.Pro28ThrfsTer4
XM_024448616.1:c.-303_-302insA	XP_024304384.1:n.-303_-302insA
NM_001300895.2:c.-303_-302insA	NP_001287824.1:n.-303_-302insA
NM_001300896.2:c.-112-205_-112-204insA	NP_001287825.1:n.-112-205_-112-204insA
NM_145200.4:c.81_82insA	NP_660201.1:p.Pro28ThrfsTer4
NM_001300895.3:c.-303_-302insA	NP_001287824.1:n.-303_-302insA
NM_001300896.3:c.-112-205_-112-204insA	NP_001287825.1:n.-112-205_-112-204insA
NM_001379183.1:c.-317_-316insA	NP_001366112.1:n.-317_-316insA
NM_145200.5:c.81_82insA MANE Select	NP_660201.1:p.Pro28ThrfsTer4
NR_166529.1:n.151_152insA