Linked Data
dbSNP Id:
rs1250638528
gnomAD v3:
12-6330795-T-TGGGGGCA
gnomAD v4:
12-6330795-T-TGGGGGCA
MyVariant Identifiers:
chr12:g.6439961_6439962insGGGGGCA (hg19)
chr12:g.6330795_6330796insGGGGGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6330796_6330802dup , CM000674.2:g.6330796_6330802dup | GRCh38 |
| NC_000012.11:g.6439962_6439968dup , CM000674.1:g.6439962_6439968dup | GRCh37 |
| NC_000012.10:g.6310223_6310229dup | NCBI36 |
| NG_007506.1:g.16294_16300dup , LRG_193:g.16294_16300dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.1726+51_1726+57dup | ||
| ENST00000437813.8:c.*86+51_*86+57dup | ENSP00000513672.1:n.*86+51_*86+57dup | |
| ENST00000440083.7:c.844+51_844+57dup | ENSP00000413224.3:n.844+51_844+57dup | |
| ENST00000535038.2:n.807+51_807+57dup | ||
| ENST00000535958.2:c.*452+51_*452+57dup | ENSP00000513673.1:n.*452+51_*452+57dup | |
| ENST00000698337.1:n.525_531dup | ||
| ENST00000698338.1:n.949_955dup | ||
| ENST00000698339.1:c.*120+51_*120+57dup | ENSP00000513670.1:n.*120+51_*120+57dup | |
| ENST00000698340.1:c.552-91_552-85dup | ENSP00000513671.1:n.552-91_552-85dup | |
| ENST00000162749.7:c.625+51_625+57dup MANE Select | ENSP00000162749.2:n.625+51_625+57dup | |
| ENST00000162749.6:c.625+51_625+57dup | ENSP00000162749.2:n.625+51_625+57dup | |
| ENST00000534885.5:c.*102+51_*102+57dup | ENSP00000441803.1:n.*102+51_*102+57dup | |
| ENST00000535038.1:n.346_352dup | ||
| ENST00000536717.5:n.529+51_529+57dup | ||
| ENST00000537842.5:n.229+51_229+57dup | ||
| ENST00000539372.5:c.625+51_625+57dup | ENSP00000442059.1:n.625+51_625+57dup | |
| ENST00000540022.5:c.496+51_496+57dup | ENSP00000438343.1:n.496+51_496+57dup | |
| ENST00000543359.5:n.38-91_38-85dup | ||
| ENST00000543995.5:c.*212+51_*212+57dup | ENSP00000442405.1:n.*212+51_*212+57dup | |
| NM_001065.3:c.625+51_625+57dup , LRG_193t1:c.625+51_625+57dup | NP_001056.1:n.625+51_625+57dup | |
| NM_001346091.1:c.301+51_301+57dup | NP_001333020.1:n.301+51_301+57dup | |
| NM_001346092.1:c.166+51_166+57dup | NP_001333021.1:n.166+51_166+57dup | |
| NR_144351.1:n.855-91_855-85dup | ||
| NM_001065.4:c.625+51_625+57dup MANE Select | NP_001056.1:n.625+51_625+57dup | |
| NM_001346091.2:c.301+51_301+57dup | NP_001333020.1:n.301+51_301+57dup | |
| NM_001346092.2:c.166+51_166+57dup | NP_001333021.1:n.166+51_166+57dup | |
| NR_144351.2:n.814-91_814-85dup |