Canonical Allele Identifier: CA10654912
Gene: CD46 HGNC NCBI

Linked Data

ClinVar Variation Id: 369948
ClinVar RCV Id: RCV000408782
dbSNP Id: rs1057516191

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207761315_207761316del , CM000663.2:g.207761315_207761316del GRCh38
NC_000001.10:g.207934660_207934661del , CM000663.1:g.207934660_207934661del GRCh37
NC_000001.9:g.206001283_206001284del NCBI36
NG_009296.1:g.14259_14260del , LRG_155:g.14259_14260del

Transcript Alleles

HGVS Amino-acid change
ENST00000496723.2:n.710_711del
ENST00000636114.2:n.703_704del
ENST00000695777.1:c.542_543del ENSP00000512167.1:p.Phe181Ter
ENST00000695778.1:c.542_543del ENSP00000512168.1:p.Phe181Ter
ENST00000695779.1:n.718_719del
ENST00000695780.1:c.542_543del ENSP00000512169.1:p.Phe181Ter
ENST00000695781.1:c.542_543del ENSP00000512170.1:p.Phe181Ter
ENST00000695782.1:c.542_543del ENSP00000512171.1:p.Phe181Ter
ENST00000695783.1:n.694_695del
ENST00000695784.1:c.542_543del ENSP00000512172.1:p.Phe181Ter
ENST00000695785.1:n.468_469del
ENST00000367042.6:c.542_543del MANE Select ENSP00000356009.1:p.Phe181Ter
ENST00000322875.8:c.542_543del ENSP00000313875.4:p.Phe181Ter
ENST00000322918.9:c.542_543del ENSP00000314664.5:p.Phe181Ter
ENST00000354848.5:c.542_543del ENSP00000346912.1:p.Phe181Ter
ENST00000357714.5:c.542_543del ENSP00000350346.1:p.Phe181Ter
ENST00000358170.6:c.542_543del ENSP00000350893.2:p.Phe181Ter
ENST00000360212.6:c.542_543del ENSP00000353342.2:p.Phe181Ter
ENST00000367041.5:c.542_543del ENSP00000356008.1:p.Phe181Ter
ENST00000367042.5:c.542_543del ENSP00000356009.1:p.Phe181Ter
ENST00000367047.5:c.353_354del ENSP00000356014.1:p.Phe118Ter
ENST00000464082.1:n.331_332del
ENST00000469535.5:n.2211_2212del
ENST00000480003.5:c.542_543del ENSP00000418471.1:p.Phe181Ter
NM_002389.4:c.542_543del , LRG_155t1:c.542_543del NP_002380.3:p.Phe181Ter
NM_153826.3:c.542_543del NP_722548.1:p.Phe181Ter
NM_172350.2:c.542_543del NP_758860.1:p.Phe181Ter
NM_172351.2:c.542_543del NP_758861.1:p.Phe181Ter
NM_172352.2:c.542_543del NP_758862.1:p.Phe181Ter
NM_172353.2:c.542_543del NP_758863.1:p.Phe181Ter
NM_172359.2:c.542_543del NP_758869.1:p.Phe181Ter
NM_172361.2:c.542_543del NP_758871.1:p.Phe181Ter
XM_011509563.1:c.542_543del XP_011507865.1:p.Phe181Ter
XM_011509564.1:c.542_543del XP_011507866.1:p.Phe181Ter
NM_172355.2:c.542_543del NP_758865.1:p.Phe181Ter
NM_172356.2:c.542_543del NP_758866.1:p.Phe181Ter
NM_172357.2:c.542_543del NP_758867.1:p.Phe181Ter
NM_172358.2:c.542_543del NP_758868.1:p.Phe181Ter
XM_011509563.2:c.542_543del XP_011507865.1:p.Phe181Ter
XM_017001308.2:c.542_543del XP_016856797.1:p.Phe181Ter
XR_001737177.2:n.699_700del
XR_002956621.1:n.699_700del
XR_002956622.1:n.699_700del
NM_153826.4:c.542_543del NP_722548.1:p.Phe181Ter
NM_172350.3:c.542_543del NP_758860.1:p.Phe181Ter
NM_172351.3:c.542_543del MANE Select NP_758861.1:p.Phe181Ter
NM_172352.3:c.542_543del NP_758862.1:p.Phe181Ter
NM_172353.3:c.542_543del NP_758863.1:p.Phe181Ter
NM_172355.3:c.542_543del NP_758865.1:p.Phe181Ter
NM_172356.3:c.542_543del NP_758866.1:p.Phe181Ter
NM_172357.3:c.542_543del NP_758867.1:p.Phe181Ter
NM_172358.3:c.542_543del NP_758868.1:p.Phe181Ter
NM_172359.3:c.542_543del NP_758869.1:p.Phe181Ter
NM_172361.3:c.542_543del NP_758871.1:p.Phe181Ter