Linked Data
dbSNP Id:
rs908486751
gnomAD v3:
1-207784898-T-TACC
gnomAD v4:
1-207784898-T-TACC
MyVariant Identifiers:
chr1:g.207958243_207958244insACC (hg19)
chr1:g.207784898_207784899insACC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207784899_207784901dup , CM000663.2:g.207784899_207784901dup | GRCh38 |
| NC_000001.10:g.207958244_207958246dup , CM000663.1:g.207958244_207958246dup | GRCh37 |
| NC_000001.9:g.206024867_206024869dup | NCBI36 |
| NG_009296.1:g.37843_37845dup , LRG_155:g.37843_37845dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490278.2:n.1985_1987dup (CD46) | ||
| ENST00000496723.2:n.1734-172_1734-170dup (CD46) | ||
| ENST00000636114.2:n.2676-172_2676-170dup (CD46) | ||
| ENST00000695777.1:c.983-172_983-170dup (CD46) | ENSP00000512167.1:n.983-172_983-170dup | |
| ENST00000695778.1:c.938-172_938-170dup (CD46) | ENSP00000512168.1:n.938-172_938-170dup | |
| ENST00000695779.1:n.1700-172_1700-170dup (CD46) | ||
| ENST00000695780.1:c.938-757_938-755dup (CD46) | ENSP00000512169.1:n.938-757_938-755dup | |
| ENST00000695781.1:c.*66-172_*66-170dup (CD46) | ENSP00000512170.1:n.*66-172_*66-170dup | |
| ENST00000695782.1:c.938-172_938-170dup (CD46) | ENSP00000512171.1:n.938-172_938-170dup | |
| ENST00000695783.1:n.4351-172_4351-170dup (CD46) | ||
| ENST00000695784.1:c.*109-172_*109-170dup (CD46) | ENSP00000512172.1:n.*109-172_*109-170dup | |
| ENST00000695786.1:n.905-172_905-170dup (CD46) | ||
| ENST00000695787.1:n.2169_2171dup (CD46) | ||
| ENST00000695788.1:n.562-172_562-170dup (CD46) | ||
| ENST00000695789.1:n.2062_2064dup (CD46) | ||
| ENST00000695790.1:n.2051_2053dup (CD46) | ||
| ENST00000367042.6:c.983-172_983-170dup (CD46) MANE Select | ENSP00000356009.1:n.983-172_983-170dup | |
| ENST00000636114.1:n.737-172_737-170dup (CD46) | ||
| ENST00000322875.8:c.1028-172_1028-170dup (CD46) | ENSP00000313875.4:n.1028-172_1028-170dup | |
| ENST00000322918.9:c.938-172_938-170dup (CD46) | ENSP00000314664.5:n.938-172_938-170dup | |
| ENST00000354848.5:c.983-172_983-170dup (CD46) | ENSP00000346912.1:n.983-172_983-170dup | |
| ENST00000357714.5:c.938-172_938-170dup (CD46) | ENSP00000350346.1:n.938-172_938-170dup | |
| ENST00000358170.6:c.1028-172_1028-170dup (CD46) | ENSP00000350893.2:n.1028-172_1028-170dup | |
| ENST00000360212.6:c.896-172_896-170dup (CD46) | ENSP00000353342.2:n.896-172_896-170dup | |
| ENST00000367041.5:c.938-172_938-170dup (CD46) | ENSP00000356008.1:n.938-172_938-170dup | |
| ENST00000367042.5:c.983-172_983-170dup (CD46) | ENSP00000356009.1:n.983-172_983-170dup | |
| ENST00000367047.5:c.839-172_839-170dup (CD46) | ENSP00000356014.1:n.839-172_839-170dup | |
| ENST00000462968.2:c.64-172_64-170dup (CD46) | ||
| ENST00000469535.5:n.5732-172_5732-170dup (CD46) | ||
| ENST00000471987.1:n.93-172_93-170dup (CD46) | ||
| ENST00000480003.5:c.941-172_941-170dup (CD46) | ENSP00000418471.1:n.941-172_941-170dup | |
| ENST00000488596.5:n.362-172_362-170dup (CD46) | ||
| NM_002389.4:c.1028-172_1028-170dup , LRG_155t1:c.1028-172_1028-170dup (CD46) | NP_002380.3:n.1028-172_1028-170dup | |
| NM_153826.3:c.983-172_983-170dup (CD46) | NP_722548.1:n.983-172_983-170dup | |
| NM_172350.2:c.938-172_938-170dup (CD46) | NP_758860.1:n.938-172_938-170dup | |
| NM_172351.2:c.983-172_983-170dup (CD46) | NP_758861.1:n.983-172_983-170dup | |
| NM_172352.2:c.938-172_938-170dup (CD46) | NP_758862.1:n.938-172_938-170dup | |
| NM_172353.2:c.938-172_938-170dup (CD46) | NP_758863.1:n.938-172_938-170dup | |
| NM_172359.2:c.1028-172_1028-170dup (CD46) | NP_758869.1:n.1028-172_1028-170dup | |
| NM_172361.2:c.896-172_896-170dup (CD46) | NP_758871.1:n.896-172_896-170dup | |
| XM_011509563.1:c.986-172_986-170dup (CD46) | XP_011507865.1:n.986-172_986-170dup | |
| XM_011509564.1:c.941-172_941-170dup (CD46) | XP_011507866.1:n.941-172_941-170dup | |
| XR_922496.1:n.7666+21104_7666+21106dup (MIR29B2CHG) | ||
| XR_922497.1:n.6306-21913_6306-21911dup (MIR29B2CHG) | ||
| NM_172355.2:c.941-172_941-170dup (CD46) | NP_758865.1:n.941-172_941-170dup | |
| NM_172356.2:c.941-172_941-170dup (CD46) | NP_758866.1:n.941-172_941-170dup | |
| NM_172357.2:c.896-172_896-170dup (CD46) | NP_758867.1:n.896-172_896-170dup | |
| NM_172358.2:c.983-172_983-170dup (CD46) | NP_758868.1:n.983-172_983-170dup | |
| XM_011509563.2:c.986-172_986-170dup (CD46) | XP_011507865.1:n.986-172_986-170dup | |
| XM_017001308.2:c.986-172_986-170dup (CD46) | XP_016856797.1:n.986-172_986-170dup | |
| XR_001737177.2:n.2134-172_2134-170dup (CD46) | ||
| XR_002956621.1:n.2672-172_2672-170dup (CD46) | ||
| XR_002956622.1:n.2672-172_2672-170dup (CD46) | ||
| NM_153826.4:c.983-172_983-170dup (CD46) | NP_722548.1:n.983-172_983-170dup | |
| NM_172350.3:c.938-172_938-170dup (CD46) | NP_758860.1:n.938-172_938-170dup | |
| NM_172351.3:c.983-172_983-170dup (CD46) MANE Select | NP_758861.1:n.983-172_983-170dup | |
| NM_172352.3:c.938-172_938-170dup (CD46) | NP_758862.1:n.938-172_938-170dup | |
| NM_172353.3:c.938-172_938-170dup (CD46) | NP_758863.1:n.938-172_938-170dup | |
| NM_172355.3:c.941-172_941-170dup (CD46) | NP_758865.1:n.941-172_941-170dup | |
| NM_172356.3:c.941-172_941-170dup (CD46) | NP_758866.1:n.941-172_941-170dup | |
| NM_172357.3:c.896-172_896-170dup (CD46) | NP_758867.1:n.896-172_896-170dup | |
| NM_172358.3:c.983-172_983-170dup (CD46) | NP_758868.1:n.983-172_983-170dup | |
| NM_172359.3:c.1028-172_1028-170dup (CD46) | NP_758869.1:n.1028-172_1028-170dup | |
| NM_172361.3:c.896-172_896-170dup (CD46) | NP_758871.1:n.896-172_896-170dup |